S44F (p.Ser44Phe) variant of KRT18 (Keratin, type I cytoskeletal 18)
S44F (p.Ser44Phe) in KRT18 (Keratin, type I cytoskeletal 18) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
S44F (p.Ser44Phe) variant details
- p.Ser44Phe
- gnomAD 12-52949304-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- REVEL 0.49
- CADD 23.10
- PolyPhen-2 0.91
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available