Q47R (p.Gln47Arg) variant of SCN10A (Nav1.8)
Q47R (p.Gln47Arg) in SCN10A (Nav1.8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
Q47R (p.Gln47Arg) variant details
- p.Gln47Arg
- gnomAD rs1317981802
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.20
- MetaLR 0.69
- MetaSVM -0.11
- CADD 12.50
- PolyPhen-2 0.01
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available