L5M (p.Leu5Met) variant of SCN1B (Q07699)
L5M (p.Leu5Met) 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; Cardiovascular phenotype; Brugada syndrome 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
L5M (p.Leu5Met) variant details
- p.Leu5Met
- rs1064796847
- ClinGen CA16620820
- ClinVar RCV000478866
- ClinVar RCV001851271
- Uncertain significance
- not provided; Cardiovascular phenotype; Brugada syndrome 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- REVEL 0.34
- ESM-1b 0.75
- AlphaMissense 0.12
- MetaLR 0.92
- MetaSVM 0.78
- CADD 24.40
- ClinVar: Uncertain significance (not provided; 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)