A30T (p.Ala30Thr) variant of SCN10A (Nav1.8)
A30T (p.Ala30Thr) in SCN10A (Nav1.8) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
A30T (p.Ala30Thr) variant details
- p.Ala30Thr
- NCI-TCGA Cosmic COSV7186
- cosmic curated COSV71861
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.459
- REVEL 0.33
- MetaLR 0.90
- MetaSVM 0.40
- CADD 22.20
- PolyPhen-2 0.80
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available