P28S (p.Pro28Ser) variant of KRT18 (Keratin, type I cytoskeletal 18)
P28S (p.Pro28Ser) in KRT18 (Keratin, type I cytoskeletal 18) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
P28S (p.Pro28Ser) variant details
- p.Pro28Ser
- gnomAD 12-52949255-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.25
- CADD 23.00
- PolyPhen-2 0.42
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available