G13V (p.Gly13Val) variant of KRT5 (Keratin, type II cytoskeletal 5)
G13V (p.Gly13Val) in KRT5 (Keratin, type II cytoskeletal 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
G13V (p.Gly13Val) variant details
- p.Gly13Val
- TOPMed rs1367644026
- gnomAD rs1367644026
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.24
- CADD 22.30
- PolyPhen-2 0.05
- SIFT 0.01
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available