E39G (p.Glu39Gly) variant of SCN10A (Q9Y5Y9)
E39G (p.Glu39Gly) in SCN10A (Q9Y5Y9) 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 0.21 / 1. The record also includes population frequency data and structural context.
E39G (p.Glu39Gly) variant details
- p.Glu39Gly
- NCI-TCGA Cosmic COSV1014
- cosmic curated COSV10147
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.207
- REVEL 0.18
- MetaLR 0.66
- MetaSVM -0.21
- CADD 6.90
- PolyPhen-2 0.00
- SIFT 0.35
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available