G33E (p.Gly33Glu) variant of SCN10A (Nav1.8)
G33E (p.Gly33Glu) 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 0.20 / 1. The record also includes population frequency data and structural context.
G33E (p.Gly33Glu) variant details
- p.Gly33Glu
- NCI-TCGA Cosmic COSV1014
- cosmic curated COSV10147
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.196
- REVEL 0.17
- MetaLR 0.47
- MetaSVM -0.46
- CADD 1.34
- PolyPhen-2 0.00
- SIFT 0.11
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available