A39del (p.Ala39del) variant of KRT18 (Keratin, type I cytoskeletal 18)
A39del (p.Ala39del) in KRT18 (Keratin, type I cytoskeletal 18) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
A39del (p.Ala39del) variant details
- gnomAD 12-52949286-GCGC-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.657
- CADD 23.00
- Population evidence available
- Structural context available
- Literature evidence available