R27R (p.Arg27Arg) variant of KRT18 (Keratin, type I cytoskeletal 18)
R27R (p.Arg27Arg) in KRT18 (Keratin, type I cytoskeletal 18) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
R27R (p.Arg27Arg) variant details
- p.Arg27Arg
- rs1473739765
- gnomAD 12-52949254-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.182
- CADD 14.30
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available
- Literature evidence available