G81V (p.Gly81Val) variant of KRT6A (Keratin, type II cytoskeletal 6A)
G81V (p.Gly81Val) in KRT6A (Keratin, type II cytoskeletal 6A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
G81V (p.Gly81Val) variant details
- p.Gly81Val
- ExAC rs764824336
- gnomAD rs764824336
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.43
- CADD 22.40
- PolyPhen-2 0.42
- SIFT 0.02
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available