Resource

Id hg19/scores/AlphaMissensecontent_copy
Type allele_score
Version 0
Summary Functional impact of mutations on protein function
Description
Labels
  • reference_genome: hg19/genomes/ucsc-hg19

Scores (2)

ID Type Default annotation Description Histogram Range Summary
am_pathogenicity float

am_pathogenicity
AlphaMissense Pathogenicity score is a deleteriousness prediction score for missense variants
Small values desc: less pathogenic
Large values desc: more pathogenic
HISTOGRAM FOR am_pathogenicity [0.0001, 1]
n
69,716,655
mean
0.409
sd
0.338
am_class str

am_class
AlphaMissense Class is a deleteriousness category for missense variants
HISTOGRAM FOR am_class benign, pathogenic, ambiguous

n counts alleles; sd is the population standard deviation.

Alleles

Chromosome Alleles substitution % insertion % deletion % complex % other %
all chromosomes 69716655 100.00% 0.00% 0.00% 0.00% 0.00%
chr1 6986071 100.00% 0.00% 0.00% 0.00% 0.00%
chr2 4996828 100.00% 0.00% 0.00% 0.00% 0.00%
chr3 4027645 100.00% 0.00% 0.00% 0.00% 0.00%
chr4 2789173 100.00% 0.00% 0.00% 0.00% 0.00%
chr5 3317777 100.00% 0.00% 0.00% 0.00% 0.00%
chr6 3587580 100.00% 0.00% 0.00% 0.00% 0.00%
chr7 3221568 100.00% 0.00% 0.00% 0.00% 0.00%
chr8 2284087 100.00% 0.00% 0.00% 0.00% 0.00%
chr9 2823615 100.00% 0.00% 0.00% 0.00% 0.00%
chr10 2724921 100.00% 0.00% 0.00% 0.00% 0.00%
chr11 4077399 100.00% 0.00% 0.00% 0.00% 0.00%
chr12 3654095 100.00% 0.00% 0.00% 0.00% 0.00%
chr13 1282281 100.00% 0.00% 0.00% 0.00% 0.00%
chr14 2257036 100.00% 0.00% 0.00% 0.00% 0.00%
chr15 2466142 100.00% 0.00% 0.00% 0.00% 0.00%
chr16 2908775 100.00% 0.00% 0.00% 0.00% 0.00%
chr17 3968007 100.00% 0.00% 0.00% 0.00% 0.00%
chr18 1135729 100.00% 0.00% 0.00% 0.00% 0.00%
chr19 4622521 100.00% 0.00% 0.00% 0.00% 0.00%
chr20 1700596 100.00% 0.00% 0.00% 0.00% 0.00%
chr21 711601 100.00% 0.00% 0.00% 0.00% 0.00%
chr22 1414918 100.00% 0.00% 0.00% 0.00% 0.00%
chrM 24074 100.00% 0.00% 0.00% 0.00% 0.00%
chrX 2570396 100.00% 0.00% 0.00% 0.00% 0.00%
chrY 163820 100.00% 0.00% 0.00% 0.00% 0.00%

Substitution matrix

ref → alt A C G T
A0
0.00%
6248347
8.96%
5299219
7.60%
5793010
8.31%
C6006082
8.61%
0
0.00%
6763700
9.70%
4769688
6.84%
G4753945
6.82%
6742266
9.67%
0
0.00%
5988779
8.59%
T5797145
8.32%
5300985
7.60%
6253489
8.97%
0
0.00%
ts/tv
0.41
20,123,837 transitions / 49,592,818 transversions

Indel lengths

alleles min max mean median
insertions 0
deletions 0

no insertions

no deletions

Complex alleles

no complex alleles

Files

Filename Size md5
AlphaMissense_hg19.tsv.gz 593.47 MB 3f14fba08c60b09a90a2ae14b7802e4c
AlphaMissense_hg19_modified.tsv.gz 579.93 MB 146ceb3ea8ab18f2f5b09dd5fa589ea2
AlphaMissense_hg19_modified.tsv.gz.tbi 653.81 KB 4861bd211d69a1b8aa84cf8966a41229
dataPrep.sh 411.0 B b91045f1411e09a4e2999ff7c16b2841
genomic_resource.yaml 2.33 KB b59dd7944dd11a0e7de2d6d2bb125ed4
statistics/