G17W (p.Gly17Trp) variant of KRT13 (Keratin, type I cytoskeletal 13)
G17W (p.Gly17Trp) in KRT13 (Keratin, type I cytoskeletal 13) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
G17W (p.Gly17Trp) variant details
- p.Gly17Trp
- ExAC rs770281794
- TOPMed rs770281794
- gnomAD rs770281794
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- REVEL 0.22
- CADD 24.20
- PolyPhen-2 0.98
- SIFT 0.02
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available