A42V (p.Ala42Val) variant of KRT3 (Keratin, type II cytoskeletal 3)
A42V (p.Ala42Val) in KRT3 (Keratin, type II cytoskeletal 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
A42V (p.Ala42Val) variant details
- p.Ala42Val
- TOPMed rs1187076781
- gnomAD rs1187076781
- Missense
- Variant Prioritization Score for Impact Estimate 0.178
- REVEL 0.14
- CADD 12.00
- PolyPhen-2 0.01
- SIFT 0.08
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available