V22L (p.Val22Leu) variant of SCN1B (Q07699)
V22L (p.Val22Leu) in SCN1B (Q07699) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
V22L (p.Val22Leu) variant details
- p.Val22Leu
- ExAC rs745578106
- TOPMed rs745578106
- gnomAD rs745578106
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.694
- REVEL 0.68
- ESM-1b 0.00
- AlphaMissense 0.98
- MetaLR 0.95
- MetaSVM 1.08
- CADD 27.60
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available