S32G (p.Ser32Gly) variant of SCN8A (Nav1.6)
S32G (p.Ser32Gly) in SCN8A (Nav1.6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
S32G (p.Ser32Gly) variant details
- p.Ser32Gly
- gnomAD 12-51662911-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- REVEL 0.41
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.53
- MetaSVM -0.39
- CADD 23.40
- Most common in the HGDP:JAPANESE population (allele frequency 1)
- Structural context available
- Literature evidence available