L75H (p.Leu75His) variant of SCN5A (Nav1.5)
L75H (p.Leu75His) 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 0.78 / 1. The record also includes structural context.
L75H (p.Leu75His) variant details
- p.Leu75His
- rs2471904723
- ClinGen CA352158044
- ClinVar RCV003136505
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.777
- ESM-1b 1.00
- AlphaMissense 0.51
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available