Variant: chr17-15976883-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.A3719G', 'p.N1240S']

Average Genotype Quality in variant carriers: 63.00

Average Depth at the site in variant carriers: 25.00

dbSNP ID: rs767592019

ClinVar: chr17-15976883-T-C

UCSC Browser: chr17-15976883-T-C

Browse the variant in INDEX-db genome browser


In silico functional predictions

Score Prediction
SIFT 0.16 T
Polyphen2 HDIV 0.015 B
Polyphen2 HVAR 0.037 B
Mutation Taster 1 D
Mutation Assessor 0.69 N
LRT 0.000 D
FATHMM -1.51 D
CADD Phred 11.22 .
CADD Raw 1.102 .

Exome Aggregation Consortium frequencies

Allele Frequency
ExAC ALL 0.0002
ExAC SAS 0.0013
ExAC AFR 0
ExAC AMR 0
ExAC EAS 0
ExAC FIN 0
ExAC NFE 0
ExAC OTH 0
1000 Genomes None