V31M (p.Val31Met) variant of SCN1B (Q07699)
V31M (p.Val31Met) 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 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
V31M (p.Val31Met) variant details
- p.Val31Met
- rs368129661
- ClinGen CA9371956
- cosmic curated COSV52894
- ClinVar RCV002371236
- Uncertain significance
- Cardiovascular phenotype; Brugada syndrome 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.763
- REVEL 0.84
- ESM-1b 0.00
- AlphaMissense 0.87
- MetaLR 0.87
- MetaSVM 0.89
- CADD 29.10
- 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)