A3T (p.Ala3Thr) variant of SCN8A (Q9UQD0)
A3T (p.Ala3Thr) in SCN8A (Q9UQD0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
A3T (p.Ala3Thr) variant details
- p.Ala3Thr
- gnomAD 12-51662824-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.572
- REVEL 0.53
- ESM-1b 0.00
- AlphaMissense 0.19
- MetaLR 0.78
- MetaSVM 0.52
- CADD 23.80
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available