R45R (p.Arg45Arg) variant of KRT18 (Keratin, type I cytoskeletal 18)
R45R (p.Arg45Arg) in KRT18 (Keratin, type I cytoskeletal 18) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
R45R (p.Arg45Arg) variant details
- p.Arg45Arg
- rs1437036447
- gnomAD 12-52949308-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.613
- CADD 10.80
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- Literature evidence available