R41R (p.Arg41Arg) variant of SCN2A (Q99250)
R41R (p.Arg41Arg) in SCN2A (Q99250) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
R41R (p.Arg41Arg) variant details
- p.Arg41Arg
- gnomAD 2-165295946-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.397
- CADD 11.60
- Most common in the Ashkenazi Jewish population (allele frequency 0.024)
- Structural context available
- Literature evidence available