A6T (p.Ala6Thr) variant of SCN1B (Q07699)
A6T (p.Ala6Thr) in SCN1B (Q07699) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
A6T (p.Ala6Thr) variant details
- p.Ala6Thr
- gnomAD 19-35030836-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- REVEL 0.33
- ESM-1b 0.00
- AlphaMissense 0.14
- MetaLR 0.91
- MetaSVM 0.60
- CADD 23.60
- Population evidence available
- Structural context available
- Literature evidence available