Variant: chr17-15950268-T-C

INDEX-db frequencies

INDEX ALL INDEX Male INDEX Female INDEX Controls
Allele Count 1 1 0 1
Allele Number 350 202 148 350
Allele Frequency 0.00286 0.00495 0.00000 0.00286
Number of Homozygotes 0 0 0 0

Gene: NCOR1

Region: exonic

Annotation: nonsynonymous_SNV

Consequence: ['c.A6367G', 'p.M2123V']

Average Genotype Quality in variant carriers: 45.00

Average Depth at the site in variant carriers: 32.00

dbSNP ID: rs547933528

ClinVar: chr17-15950268-T-C

UCSC Browser: chr17-15950268-T-C

Browse the variant in INDEX-db genome browser


In silico functional predictions

Score Prediction
SIFT 0.362 T
Polyphen2 HDIV 0.94 P
Polyphen2 HVAR 0.937 D
Mutation Taster 1.000 D
Mutation Assessor 0.975 L
LRT 0.000 D
FATHMM 1.66 T
CADD Phred 9.453 .
CADD Raw 0.798 .

Exome Aggregation Consortium frequencies

Allele Frequency
ExAC ALL 1.651e-05
ExAC SAS 0.0001
ExAC AFR 0
ExAC AMR 0
ExAC EAS 0
ExAC FIN 0
ExAC NFE 0
ExAC OTH 0
1000 Genomes 0.000199681