R45R (p.Arg45Arg) variant of SCN8A (Q9UQD0)
R45R (p.Arg45Arg) in SCN8A (Q9UQD0) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
R45R (p.Arg45Arg) variant details
- p.Arg45Arg
- rs1465422536
- gnomAD 12-51662952-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.237
- CADD 12.30
- Most common in the REMAINING population (allele frequency 3.4e-05)
- Structural context available
- Literature evidence available