R3G (p.Arg3Gly) variant of SCN1B (Q07699)
R3G (p.Arg3Gly) in SCN1B (Q07699) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
R3G (p.Arg3Gly) variant details
- p.Arg3Gly
- gnomAD 19-35030827-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.24
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.77
- MetaSVM 0.22
- CADD 21.80
- Most common in the Non-Finnish European population (allele frequency 1.3e-06)
- Structural context available
- Literature evidence available