P28T (p.Pro28Thr) variant of KRT18 (Keratin, type I cytoskeletal 18)
P28T (p.Pro28Thr) in KRT18 (Keratin, type I cytoskeletal 18) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
P28T (p.Pro28Thr) variant details
- p.Pro28Thr
- gnomAD 12-52949255-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- REVEL 0.17
- CADD 22.50
- PolyPhen-2 0.06
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available