G77D (p.Gly77Asp) variant of SCN4A (Nav1.4)
G77D (p.Gly77Asp) in SCN4A (Nav1.4) 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 0.68 / 1. The record also includes population frequency data and structural context.
G77D (p.Gly77Asp) variant details
- p.Gly77Asp
- NCI-TCGA Cosmic COSV7112
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.678
- REVEL 0.62
- CADD 23.30
- PolyPhen-2 0.56
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available