G81A (p.Gly81Ala) variant of KRT6B (Keratin, type II cytoskeletal 6B)
G81A (p.Gly81Ala) in KRT6B (Keratin, type II cytoskeletal 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
G81A (p.Gly81Ala) variant details
- p.Gly81Ala
- ExAC rs776820315
- gnomAD rs776820315
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- REVEL 0.28
- CADD 13.00
- PolyPhen-2 0.07
- SIFT 0.13
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available