G2R (p.Gly2Arg) variant of SCN1B (Q07699)
G2R (p.Gly2Arg) in SCN1B (Q07699) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
G2R (p.Gly2Arg) variant details
- p.Gly2Arg
- gnomAD 19-35030824-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- REVEL 0.48
- ESM-1b 0.00
- AlphaMissense 0.24
- MetaLR 0.90
- MetaSVM 0.54
- CADD 25.00
- Population evidence available
- Structural context available
- Literature evidence available