A58V (p.Ala58Val) variant of KRT1 (Keratin, type II cytoskeletal 1)
A58V (p.Ala58Val) in KRT1 (Keratin, type II cytoskeletal 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
A58V (p.Ala58Val) variant details
- p.Ala58Val
- Ensembl rs1941565389
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.18
- CADD 0.79
- PolyPhen-2 0.03
- SIFT 0.58
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available