V28A (p.Val28Ala) variant of KRT6A (Keratin, type II cytoskeletal 6A)
V28A (p.Val28Ala) in KRT6A (Keratin, type II cytoskeletal 6A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
V28A (p.Val28Ala) variant details
- p.Val28Ala
- Ensembl rs1592186813
- Missense
- Variant Prioritization Score for Impact Estimate 0.112
- REVEL 0.12
- CADD 3.44
- PolyPhen-2 0.00
- SIFT 0.80
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available