V14A (p.Val14Ala) variant of SCN1B (Q07699)
V14A (p.Val14Ala) in SCN1B (Q07699) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Brugada syndrome 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes published literature and structural context.
V14A (p.Val14Ala) variant details
- p.Val14Ala
- rs2151745962
- ClinGen CA405327869
- ClinVar RCV001550464
- ClinVar RCV002568318
- Uncertain significance
- not provided; Brugada syndrome 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- ESM-1b 0.00
- AlphaMissense 0.15
- MetaLR 0.90
- MetaSVM 0.91
- PolyPhen-2 0.27
- SIFT 0.03
- ClinVar: Uncertain significance (not provided; Brugada syndrome 5)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)