V19A (p.Val19Ala) variant of KRT18 (Keratin, type I cytoskeletal 18)
V19A (p.Val19Ala) in KRT18 (Keratin, type I cytoskeletal 18) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
V19A (p.Val19Ala) variant details
- p.Val19Ala
- Ensembl rs1942416434
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.08
- CADD 13.90
- PolyPhen-2 0.00
- SIFT 0.21
- Population evidence available
- Structural context available