R3W (p.Arg3Trp) variant of SCN1B (Q07699)
R3W (p.Arg3Trp) in SCN1B (Q07699) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
R3W (p.Arg3Trp) variant details
- p.Arg3Trp
- gnomAD 19-35030827-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.30
- ESM-1b 0.00
- AlphaMissense 0.20
- MetaLR 0.84
- MetaSVM 0.43
- CADD 24.70
- Most common in the Non-Finnish European population (allele frequency 1.3e-06)
- Structural context available
- Literature evidence available