R3R (p.Arg3Arg) variant of SCN1B (Q07699)
R3R (p.Arg3Arg) in SCN1B (Q07699) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
R3R (p.Arg3Arg) variant details
- p.Arg3Arg
- gnomAD 19-35030827-A-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.315
- CADD 13.40
- Most common in the South Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available