G10V (p.Gly10Val) variant of SCN1B (Q07699)
G10V (p.Gly10Val) in SCN1B (Q07699) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
G10V (p.Gly10Val) variant details
- p.Gly10Val
- gnomAD 19-35030849-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- REVEL 0.40
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.89
- MetaSVM 0.56
- CADD 23.40
- Most common in the REMAINING population (allele frequency 3.4e-05)
- Structural context available
- Literature evidence available