A6V (p.Ala6Val) variant of SCN1B (Q07699)
A6V (p.Ala6Val) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
A6V (p.Ala6Val) variant details
- p.Ala6Val
- rs2064208550
- ClinGen CA405327814
- ClinVar RCV002407874
- ClinVar RCV003328701
- Uncertain significance
- Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.28
- ESM-1b 0.00
- AlphaMissense 0.13
- MetaLR 0.90
- MetaSVM 0.57
- CADD 23.60
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available