S47P (p.Ser47Pro) variant of KRT18 (Keratin, type I cytoskeletal 18)
S47P (p.Ser47Pro) in KRT18 (Keratin, type I cytoskeletal 18) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
S47P (p.Ser47Pro) variant details
- p.Ser47Pro
- gnomAD 12-52949312-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.653
- REVEL 0.69
- CADD 24.60
- PolyPhen-2 0.13
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available