R27R (p.Arg27Arg) variant of SCN8A (Q9UQD0)
R27R (p.Arg27Arg) 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.
R27R (p.Arg27Arg) variant details
- p.Arg27Arg
- rs748777974
- gnomAD 12-51662898-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.449
- CADD 12.90
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available