A42V (p.Ala42Val) variant of KRT14 (Keratin, type I cytoskeletal 14)
A42V (p.Ala42Val) in KRT14 (Keratin, type I cytoskeletal 14) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
A42V (p.Ala42Val) variant details
- p.Ala42Val
- Ensembl rs1907547021
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- REVEL 0.42
- CADD 22.90
- PolyPhen-2 0.94
- SIFT 0.31
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available