L1308F (p.Leu1308Phe) variant of SCN5A (Nav1.5)
L1308F (p.Leu1308Phe) in SCN5A (Nav1.5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cardiovascular phenotype; Cardiac arrhythmia; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
L1308F (p.Leu1308Phe) variant details
- p.Leu1308Phe
- rs41313031
- ClinGen CA017626
- ClinVar RCV000010010
- ClinVar RCV000058614
- Pathogenic
- Cardiovascular phenotype; Cardiac arrhythmia; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.904
- AlphaMissense 0.96
- MetaLR 0.96
- MetaSVM 0.95
- PolyPhen-2 0.97
- SIFT 0.02
- EVE 0.72
- ClinVar: Pathogenic (Brugada syndrome 1)
- EBI: Pathogenic (associated with I-232 in a case of lidocaine-induced Brugada syn)
- UniProt: Pathogenic (associated with I-232 in a case of lidocaine-induced Brugada syn)
- Population evidence available
- Structural context available
- Cited in: Ionic mechanisms responsible for the electrocardiographic phenotype of the Brugada syndrome are temperature dependent. (PMID 10532948)
- Cited in: Spectrum and prevalence of cardiac sodium channel variants among black, white, Asian, and Hispanic individuals… (PMID 15851227)