A59T (p.Ala59Thr) variant of SCN10A (Nav1.8)
A59T (p.Ala59Thr) in SCN10A (Nav1.8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
A59T (p.Ala59Thr) variant details
- p.Ala59Thr
- cosmic curated COSV10471
- TOPMed rs2064316937
- Missense
- Variant Prioritization Score for Impact Estimate 0.622
- REVEL 0.63
- MetaLR 0.94
- MetaSVM 1.08
- CADD 25.50
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available