E34Q (p.Glu34Gln) variant of SCN9A (Q15858)
E34Q (p.Glu34Gln) in SCN9A (Q15858) 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 0.47 / 1. The record also includes population frequency data and structural context.
E34Q (p.Glu34Gln) variant details
- p.Glu34Gln
- NCI-TCGA Cosmic COSV5761
- cosmic curated COSV57612
- NCI-TCGA Cosmic COSV5762
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- MetaLR 0.63
- MetaSVM -0.27
- CADD 15.80
- PolyPhen-2 0.02
- SIFT 0.33
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available