M1L (p.Met1Leu) variant of SCN5A (Q14524)
M1L (p.Met1Leu) in SCN5A (Q14524) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; Brugada syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes structural context.
M1L (p.Met1Leu) variant details
- p.Met1Leu
- rs1553607722
- ClinGen CA352159669
- ClinVar RCV005400731
- Conflicting interpretations
- Cardiovascular phenotype; Brugada syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.633
- MetaLR 0.68
- MetaSVM 0.48
- PolyPhen-2 0.01
- SIFT 0.00
- MutPred 0.97
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Brugada syndrome 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available