P8A (p.Pro8Ala) variant of SCN8A (Q9UQD0)
P8A (p.Pro8Ala) in SCN8A (Q9UQD0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
P8A (p.Pro8Ala) variant details
- p.Pro8Ala
- ExAC rs780814153
- gnomAD rs780814153
- Missense
- Variant Prioritization Score for Impact Estimate 0.739
- REVEL 0.80
- ESM-1b 0.16
- AlphaMissense 0.28
- MetaLR 0.94
- MetaSVM 1.08
- CADD 24.80
- Most common in the Non-Finnish European population (allele frequency 0.00063)
- Structural context available