A106V (p.Ala106Val) variant of SCN10A (Nav1.8)
A106V (p.Ala106Val) in SCN10A (Nav1.8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
A106V (p.Ala106Val) variant details
- p.Ala106Val
- TOPMed rs1471527204
- Missense
- Variant Prioritization Score for Impact Estimate 0.831
- REVEL 0.80
- MetaLR 0.95
- MetaSVM 1.10
- CADD 28.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available