G2W (p.Gly2Trp) variant of SCN1B (Q07699)
G2W (p.Gly2Trp) 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.
G2W (p.Gly2Trp) variant details
- p.Gly2Trp
- gnomAD 19-35030824-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.503
- REVEL 0.48
- ESM-1b 0.00
- AlphaMissense 0.16
- MetaLR 0.91
- MetaSVM 0.57
- CADD 25.60
- Most common in the Non-Finnish European population (allele frequency 3.8e-06)
- Structural context available
- Literature evidence available