V22A (p.Val22Ala) variant of KRT3 (Keratin, type II cytoskeletal 3)
V22A (p.Val22Ala) in KRT3 (Keratin, type II cytoskeletal 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
V22A (p.Val22Ala) variant details
- p.Val22Ala
- TOPMed rs1193249230
- gnomAD rs1193249230
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- REVEL 0.23
- CADD 14.40
- PolyPhen-2 0.10
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available