R6R (p.Arg6Arg) variant of KRT18 (Keratin, type I cytoskeletal 18)
R6R (p.Arg6Arg) in KRT18 (Keratin, type I cytoskeletal 18) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
R6R (p.Arg6Arg) variant details
- p.Arg6Arg
- rs1453803582
- gnomAD 12-52949191-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.258
- CADD 12.10
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Literature evidence available