L83V (p.Leu83Val) variant of SCN5A (Nav1.5)
L83V (p.Leu83Val) 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 0.46 / 1. The record also includes population frequency data and structural context.
L83V (p.Leu83Val) variant details
- p.Leu83Val
- rs2471904289
- ClinGen CA352157895
- ClinVar RCV004012332
- Uncertain significance
- Cardiac arrhythmia
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- REVEL 0.51
- ESM-1b 0.00
- AlphaMissense 0.13
- MetaLR 0.78
- MetaSVM 0.62
- CADD 21.50
- ClinVar: Uncertain significance (Cardiac arrhythmia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available