A57V (p.Ala57Val) variant of KRT13 (Keratin, type I cytoskeletal 13)
A57V (p.Ala57Val) in KRT13 (Keratin, type I cytoskeletal 13) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
A57V (p.Ala57Val) variant details
- p.Ala57Val
- ExAC rs751353143
- gnomAD rs751353143
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.18
- CADD 17.30
- PolyPhen-2 0.05
- SIFT 0.45
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available