A17V (p.Ala17Val) variant of SCN1B (Q07699)
A17V (p.Ala17Val) 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; Brugada syndrome 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
A17V (p.Ala17Val) variant details
- p.Ala17Val
- rs2064220382
- ClinGen CA405327888
- ClinVar RCV002335986
- ClinVar RCV003621633
- Uncertain significance
- Cardiovascular phenotype; Brugada syndrome 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.31
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.71
- MetaSVM 0.27
- CADD 21.30
- ClinVar: Uncertain significance (Cardiovascular phenotype; Brugada syndrome 5)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)