R4R (p.Arg4Arg) variant of SCN8A (Q9UQD0)
R4R (p.Arg4Arg) in SCN8A (Q9UQD0) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
R4R (p.Arg4Arg) variant details
- p.Arg4Arg
- gnomAD 12-51662829-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.451
- CADD 13.10
- Population evidence available
- Structural context available
- Literature evidence available