A12T (p.Ala12Thr) variant of SCN1B (Q07699)
A12T (p.Ala12Thr) in SCN1B (Q07699) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
A12T (p.Ala12Thr) variant details
- p.Ala12Thr
- gnomAD 19-35030854-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.15
- ESM-1b 0.17
- AlphaMissense 0.12
- MetaLR 0.75
- MetaSVM 0.04
- CADD 21.60
- Population evidence available
- Structural context available
- Literature evidence available