R14R (p.Arg14Arg) variant of KRT18 (Keratin, type I cytoskeletal 18)
R14R (p.Arg14Arg) in KRT18 (Keratin, type I cytoskeletal 18) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
R14R (p.Arg14Arg) variant details
- p.Arg14Arg
- gnomAD 12-52949213-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.498
- CADD 17.40
- Population evidence available
- Structural context available
- Literature evidence available