G70A (p.Gly70Ala) variant of SCN8A (Nav1.6)
G70A (p.Gly70Ala) in SCN8A (Nav1.6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
G70A (p.Gly70Ala) variant details
- p.Gly70Ala
- gnomAD 12-51663026-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.846
- REVEL 0.86
- ESM-1b 1.00
- AlphaMissense 0.76
- MetaLR 0.92
- MetaSVM 1.07
- CADD 25.80
- Most common in the 1KG:ASW population (allele frequency 0.0098)
- Structural context available
- Literature evidence available