G64V (p.Gly64Val) variant of SCN9A (Nav1.7)
G64V (p.Gly64Val) in SCN9A (Nav1.7) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. 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.
G64V (p.Gly64Val) variant details
- p.Gly64Val
- 1000Genomes rs558889724
- ExAC rs558889724
- TOPMed rs558889724
- gnomAD rs558889724
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.682
- AlphaMissense 0.43
- MetaLR 0.96
- MetaSVM 1.10
- CADD 24.40
- PolyPhen-2 1.00
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available