A26D (p.Ala26Asp) variant of KRT18 (Keratin, type I cytoskeletal 18)
A26D (p.Ala26Asp) in KRT18 (Keratin, type I cytoskeletal 18) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
A26D (p.Ala26Asp) variant details
- p.Ala26Asp
- gnomAD 12-52949250-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.194
- REVEL 0.18
- CADD 9.87
- PolyPhen-2 0.00
- SIFT 0.13
- Population evidence available
- Structural context available
- Literature evidence available