G40W (p.Gly40Trp) variant of KRT18 (Keratin, type I cytoskeletal 18)
G40W (p.Gly40Trp) in KRT18 (Keratin, type I cytoskeletal 18) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
G40W (p.Gly40Trp) variant details
- p.Gly40Trp
- gnomAD 12-52949291-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.606
- REVEL 0.63
- CADD 25.00
- PolyPhen-2 0.05
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available