A89V (p.Ala89Val) variant of KRT5 (Keratin, type II cytoskeletal 5)
A89V (p.Ala89Val) in KRT5 (Keratin, type II cytoskeletal 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
A89V (p.Ala89Val) variant details
- p.Ala89Val
- gnomAD rs1252446552
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.12
- CADD 10.40
- PolyPhen-2 0.00
- SIFT 0.27
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available