R50R (p.Arg50Arg) variant of KRT18 (Keratin, type I cytoskeletal 18)
R50R (p.Arg50Arg) 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.
R50R (p.Arg50Arg) variant details
- p.Arg50Arg
- gnomAD 12-52949323-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.505
- CADD 13.10
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- Literature evidence available