S50R (p.Ser50Arg) variant of SCN9A (Nav1.7)
S50R (p.Ser50Arg) in SCN9A (Nav1.7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
S50R (p.Ser50Arg) variant details
- p.Ser50Arg
- gnomAD rs1344699520
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- MetaLR 0.66
- MetaSVM 0.10
- CADD 18.20
- PolyPhen-2 0.10
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available