A32V (p.Ala32Val) variant of KRT18 (Keratin, type I cytoskeletal 18)
A32V (p.Ala32Val) in KRT18 (Keratin, type I cytoskeletal 18) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
A32V (p.Ala32Val) variant details
- p.Ala32Val
- gnomAD rs1297779360
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.31
- CADD 23.20
- PolyPhen-2 0.00
- SIFT 0.10
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available