V31L (p.Val31Leu) variant of SCN1B (Q07699)
V31L (p.Val31Leu) in SCN1B (Q07699) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
V31L (p.Val31Leu) variant details
- p.Val31Leu
- ESP rs368129661
- ExAC rs368129661
- TOPMed rs368129661
- gnomAD rs368129661
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.702
- REVEL 0.74
- ESM-1b 0.00
- AlphaMissense 0.91
- MetaLR 0.83
- MetaSVM 0.61
- CADD 28.20
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available