A6P (p.Ala6Pro) variant of SCN1B (Q07699)
A6P (p.Ala6Pro) in SCN1B (Q07699) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Brugada syndrome 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
A6P (p.Ala6Pro) variant details
- p.Ala6Pro
- rs1308862852
- ClinGen CA405327810
- ClinVar RCV001211790
- TOPMed rs1308862852
- Uncertain significance
- Brugada syndrome 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.576
- REVEL 0.61
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.89
- MetaSVM 0.60
- CADD 25.20
- ClinVar: Uncertain significance (Brugada syndrome 5)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)