S64G (p.Ser64Gly) variant of SCN8A (Q9UQD0)
S64G (p.Ser64Gly) in SCN8A (Q9UQD0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
S64G (p.Ser64Gly) variant details
- p.Ser64Gly
- gnomAD 12-51663007-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- REVEL 0.33
- ESM-1b 0.63
- AlphaMissense 0.08
- MetaLR 0.72
- MetaSVM 0.41
- CADD 22.70
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available