V77A (p.Val77Ala) variant of SCN8A (Q9UQD0)
V77A (p.Val77Ala) in SCN8A (Q9UQD0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
V77A (p.Val77Ala) variant details
- p.Val77Ala
- ExAC rs773094980
- gnomAD rs773094980
- Missense
- Variant Prioritization Score for Impact Estimate 0.519
- REVEL 0.50
- ESM-1b 0.97
- AlphaMissense 0.07
- MetaLR 0.06
- MetaSVM -1.06
- CADD 23.70
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available