R7R (p.Arg7Arg) variant of KCNQ4 (P56696)
R7R (p.Arg7Arg) in KCNQ4 (P56696) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
R7R (p.Arg7Arg) variant details
- p.Arg7Arg
- gnomAD 1-40784114-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.564
- CADD 14.10
- Population evidence available
- Structural context available
- Literature evidence available