L173V (p.Leu173Val) variant of SCN5A (Nav1.5)
L173V (p.Leu173Val) in SCN5A (Nav1.5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
L173V (p.Leu173Val) variant details
- p.Leu173Val
- cosmic curated COSV10465
- TOPMed rs1257767162
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.564
- REVEL 0.65
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.89
- MetaSVM 0.68
- CADD 22.70
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 7.2e-06)
- Structural context available