V19F (p.Val19Phe) variant of KRT18 (Keratin, type I cytoskeletal 18)
V19F (p.Val19Phe) in KRT18 (Keratin, type I cytoskeletal 18) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
V19F (p.Val19Phe) variant details
- p.Val19Phe
- gnomAD 12-52949228-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.33
- CADD 17.10
- PolyPhen-2 0.38
- SIFT 0.14
- Population evidence available
- Structural context available
- Literature evidence available