Q7H (p.Gln7His) variant of KRT14 (Keratin, type I cytoskeletal 14)
Q7H (p.Gln7His) in KRT14 (Keratin, type I cytoskeletal 14) 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.
Q7H (p.Gln7His) variant details
- p.Gln7His
- ExAC rs763817312
- gnomAD rs763817312
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.39
- CADD 22.90
- PolyPhen-2 0.96
- SIFT 0.07
- Population evidence available
- Structural context available