A30P (p.Ala30Pro) variant of SCN1B (Q07699)
A30P (p.Ala30Pro) in SCN1B (Q07699) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
A30P (p.Ala30Pro) variant details
- p.Ala30Pro
- gnomAD 19-35032575-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.871
- REVEL 0.92
- ESM-1b 0.76
- AlphaMissense 0.99
- MetaLR 0.87
- MetaSVM 0.89
- CADD 30.00
- Population evidence available
- Structural context available
- Literature evidence available