R8R (p.Arg8Arg) variant of KCNQ4 (P56696)
R8R (p.Arg8Arg) in KCNQ4 (P56696) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
R8R (p.Arg8Arg) variant details
- p.Arg8Arg
- gnomAD 1-40784117-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.332
- CADD 13.40
- Most common in the African/African-American population (allele frequency 8.2e-05)
- Structural context available
- Literature evidence available