A62D (p.Ala62Asp) variant of KRT14 (Keratin, type I cytoskeletal 14)
A62D (p.Ala62Asp) in KRT14 (Keratin, type I cytoskeletal 14) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
A62D (p.Ala62Asp) variant details
- p.Ala62Asp
- ExAC rs760311515
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.33
- CADD 6.71
- PolyPhen-2 0.13
- SIFT 0.05
- Population evidence available
- Structural context available