A7V (p.Ala7Val) variant of SCN8A (Q9UQD0)
A7V (p.Ala7Val) in SCN8A (Q9UQD0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
A7V (p.Ala7Val) variant details
- p.Ala7Val
- gnomAD 12-51662837-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.526
- REVEL 0.43
- ESM-1b 0.00
- AlphaMissense 0.19
- MetaLR 0.75
- MetaSVM 0.24
- CADD 22.60
- Most common in the HGDP:JAPANESE population (allele frequency 1)
- Structural context available
- Literature evidence available