L212V (p.Leu212Val) variant of SCN5A (Nav1.5)
L212V (p.Leu212Val) in SCN5A (Nav1.5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes structural context.
L212V (p.Leu212Val) variant details
- p.Leu212Val
- rs2471802891
- ClinGen CA352151664
- ClinVar RCV002368968
- ClinVar RCV003776242
- Uncertain significance
- not provided; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.688
- ESM-1b 1.00
- AlphaMissense 0.31
- ClinVar: Uncertain significance (not provided; Cardiovascular phenotype)
- EBI: Variant of uncertain significance (in BRGDA1)
- UniProt: Uncertain significance (in BRGDA1)
- Structural context available