A100V (p.Ala100Val) variant of KRT9 (Keratin, type I cytoskeletal 9)
A100V (p.Ala100Val) in KRT9 (Keratin, type I cytoskeletal 9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
A100V (p.Ala100Val) variant details
- p.Ala100Val
- gnomAD rs1375408427
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.31
- CADD 3.38
- PolyPhen-2 0.00
- SIFT 0.19
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available