R55R (p.Arg55Arg) variant of KRT18 (Keratin, type I cytoskeletal 18)
R55R (p.Arg55Arg) in KRT18 (Keratin, type I cytoskeletal 18) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
R55R (p.Arg55Arg) variant details
- p.Arg55Arg
- rs78718957
- gnomAD 12-52949336-A-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.354
- CADD 12.30
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Literature evidence available