A11P (p.Ala11Pro) variant of SCN1B (Q07699)
A11P (p.Ala11Pro) in SCN1B (Q07699) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
A11P (p.Ala11Pro) variant details
- p.Ala11Pro
- gnomAD 19-35030851-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.579
- REVEL 0.65
- ESM-1b 1.00
- AlphaMissense 0.27
- MetaLR 0.86
- MetaSVM 0.41
- CADD 23.00
- Population evidence available
- Structural context available
- Literature evidence available