S49F (p.Ser49Phe) variant of KRT18 (Keratin, type I cytoskeletal 18)
S49F (p.Ser49Phe) in KRT18 (Keratin, type I cytoskeletal 18) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
S49F (p.Ser49Phe) variant details
- p.Ser49Phe
- gnomAD 12-52949319-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.618
- REVEL 0.55
- CADD 21.50
- PolyPhen-2 0.01
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available