A29V (p.Ala29Val) variant of SCN10A (Q9Y5Y9)
A29V (p.Ala29Val) in SCN10A (Q9Y5Y9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
A29V (p.Ala29Val) variant details
- p.Ala29Val
- ExAC rs749126779
- gnomAD rs749126779
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.26
- MetaLR 0.83
- MetaSVM 0.30
- CADD 22.60
- PolyPhen-2 0.35
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available