L83M (p.Leu83Met) variant of SCN5A (Nav1.5)
L83M (p.Leu83Met) in SCN5A (Nav1.5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiac arrhythmia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes structural context.
L83M (p.Leu83Met) variant details
- p.Leu83Met
- rs2471904289
- ClinGen CA352157897
- ClinVar RCV004013134
- Uncertain significance
- Cardiac arrhythmia
- Missense
- Variant Prioritization Score for Impact Estimate 0.544
- ESM-1b 0.77
- AlphaMissense 0.13
- ClinVar: Uncertain significance (Cardiac arrhythmia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available