E23G (p.Glu23Gly) variant of SCN10A (Q9Y5Y9)
E23G (p.Glu23Gly) 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 0.45 / 1. The record also includes population frequency data and structural context.
E23G (p.Glu23Gly) variant details
- p.Glu23Gly
- rs1456404908
- NCI-TCGA Cosmic COSV7186
- cosmic curated COSV71862
- gnomAD rs1456404908
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- REVEL 0.35
- MetaLR 0.75
- MetaSVM 0.36
- CADD 23.10
- PolyPhen-2 0.08
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available