Variant: chr20-31383299-A-G

INDEX-db frequencies

INDEX ALL INDEX Male INDEX Female INDEX Controls
Allele Count 29 19 10 29
Allele Number 350 202 148 350
Allele Frequency 0.08286 0.09406 0.06757 0.08286
Number of Homozygotes 1 1 0 1

Gene: DNMT3B

Region: exonic

Annotation: nonsynonymous_SNV

Consequence: ['c.A923G', 'p.Y308C']

Average Genotype Quality in variant carriers: 123.50

Average Depth at the site in variant carriers: 75.39

dbSNP ID: rs143462810

ClinVar: chr20-31383299-A-G

UCSC Browser: chr20-31383299-A-G

Browse the variant in INDEX-db genome browser


In silico functional predictions

Score Prediction
SIFT 0.163 T
Polyphen2 HDIV 0.002 B
Polyphen2 HVAR 0.007 B
Mutation Taster 1.000 N
Mutation Assessor 0.895 L
LRT 0.159 N
FATHMM -4.1 D
CADD Phred 11.81 .
CADD Raw 1.212 .

Exome Aggregation Consortium frequencies

Allele Frequency
ExAC ALL 0.0089
ExAC SAS 0.0634
ExAC AFR 9.615e-05
ExAC AMR 0.0014
ExAC EAS 0
ExAC FIN 0.0002
ExAC NFE 0.0002
ExAC OTH 0.0033
1000 Genomes 0.0159744