S44T (p.Ser44Thr) variant of KRT18 (Keratin, type I cytoskeletal 18)
S44T (p.Ser44Thr) in KRT18 (Keratin, type I cytoskeletal 18) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
S44T (p.Ser44Thr) variant details
- p.Ser44Thr
- gnomAD 12-52949303-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.27
- CADD 22.70
- Population evidence available
- Structural context available
- Literature evidence available