V1763M (p.Val1763Met) variant of SCN5A (Nav1.5)
V1763M (p.Val1763Met) in SCN5A (Nav1.5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; SUDDEN INFANT DEATH SYNDROME; Long QT syndrome 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
V1763M (p.Val1763Met) variant details
- p.Val1763Met
- rs199473631
- ClinGen CA019062
- ClinVar RCV000058760
- ClinVar RCV000183112
- Pathogenic
- not provided; SUDDEN INFANT DEATH SYNDROME; Long QT syndrome 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.88
- AlphaMissense 0.89
- MetaLR 0.96
- MetaSVM 1.11
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.63
- ClinVar: Pathogenic (not provided; SUDDEN INFANT DEATH SYNDROME; Long QT syndrome 3)
- EBI: Pathogenic (in LQT3)
- UniProt: Pathogenic (in LQT3)
- Structural context available
- Cited in: Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic… (PMID 15840476)
- Cited in: Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long… (PMID 19716085)