R50A (p.Arg50Ala) variant of KRT18 (Keratin, type I cytoskeletal 18)
R50A (p.Arg50Ala) in KRT18 (Keratin, type I cytoskeletal 18) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
R50A (p.Arg50Ala) variant details
- p.Arg50Ala
- gnomAD 12-52949318-TC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.36
- CADD 25.10
- Population evidence available
- Structural context available
- Literature evidence available