M1L (p.Met1Leu) variant of SCN1B (Q07699)
M1L (p.Met1Leu) in SCN1B (Q07699) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes published literature and structural context.
M1L (p.Met1Leu) variant details
- p.Met1Leu
- rs1375857363
- ClinGen CA405327765
- ClinVar RCV000578768
- ClinVar RCV001215961
- Conflicting interpretations
- Cardiovascular phenotype; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.626
- ESM-1b 1.00
- AlphaMissense 0.11
- MetaLR 0.69
- MetaSVM -0.25
- PolyPhen-2 0.00
- SIFT 0.29
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not specified; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)