L39V (p.Leu39Val) variant of SCN5A (Nav1.5)
L39V (p.Leu39Val) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
L39V (p.Leu39Val) variant details
- p.Leu39Val
- rs2471905915
- ClinGen CA352158796
- ClinVar RCV003841136
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.23
- REVEL 0.31
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.33
- MetaSVM -0.96
- CADD 0.70
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available