A12P (p.Ala12Pro) variant of SCN1B (Q07699)
A12P (p.Ala12Pro) in SCN1B (Q07699) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
A12P (p.Ala12Pro) variant details
- p.Ala12Pro
- gnomAD 19-35030854-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.597
- REVEL 0.64
- ESM-1b 1.00
- AlphaMissense 0.26
- MetaLR 0.84
- MetaSVM 0.37
- CADD 23.70
- Population evidence available
- Structural context available
- Literature evidence available