C43G (p.Cys43Gly) variant of SCN1B (Q07699)
C43G (p.Cys43Gly) in SCN1B (Q07699) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
C43G (p.Cys43Gly) variant details
- p.Cys43Gly
- gnomAD 19-35032614-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.793
- REVEL 0.83
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.84
- MetaSVM 0.71
- CADD 29.90
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available