V22M (p.Val22Met) variant of SCN1B (Q07699)
V22M (p.Val22Met) 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; Cardiovascular phenotype. 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.
V22M (p.Val22Met) variant details
- p.Val22Met
- rs745578106
- ClinGen CA405327916
- NCI-TCGA Cosmic COSV5289
- cosmic curated COSV52893
- Uncertain significance
- Brugada syndrome 5; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.758
- REVEL 0.70
- ESM-1b 0.50
- AlphaMissense 0.98
- MetaLR 0.96
- MetaSVM 1.09
- CADD 28.50
- ClinVar: Uncertain significance (Brugada syndrome 5; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)