A130V (p.Ala130Val) variant of KRT13 (Keratin, type I cytoskeletal 13)
A130V (p.Ala130Val) in KRT13 (Keratin, type I cytoskeletal 13) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
A130V (p.Ala130Val) variant details
- p.Ala130Val
- ExAC rs374240623
- TOPMed rs374240623
- gnomAD rs374240623
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- REVEL 0.31
- CADD 22.70
- PolyPhen-2 0.51
- SIFT 0.02
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available