E74D (p.Glu74Asp) variant of SCN5A (Nav1.5)
E74D (p.Glu74Asp) 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 0.32 / 1. The record also includes population frequency data and structural context.
E74D (p.Glu74Asp) variant details
- p.Glu74Asp
- rs184966825
- ClinGen CA352158055
- ClinVar RCV003543216
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.20
- ESM-1b 0.48
- AlphaMissense 0.10
- MetaLR 0.72
- MetaSVM 0.23
- CADD 13.79
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available