M1L (p.Met1Leu) variant of SCN5A (Nav1.5)
M1L (p.Met1Leu) in SCN5A (Nav1.5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; not provided; Brugada syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes published literature and structural context.
M1L (p.Met1Leu) variant details
- p.Met1Leu
- rs1553607722
- ClinGen CA352159669
- ClinVar RCV005400731
- ClinVar RCV006649097
- Conflicting interpretations
- Cardiovascular phenotype; not provided; Brugada syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.532
- ESM-1b 0.19
- AlphaMissense 0.36
- MetaLR 0.68
- MetaSVM 0.48
- CADD 23.80
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not provided; Brugada syndrome 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)