R36R (p.Arg36Arg) variant of SCN2A (Q99250)
R36R (p.Arg36Arg) in SCN2A (Q99250) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
R36R (p.Arg36Arg) variant details
- p.Arg36Arg
- rs796053167
- gnomAD 2-165295929-A-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.437
- CADD 12.50
- Most common in the HGDP:SINDHI population (allele frequency 0.023)
- Structural context available
- Literature evidence available