E74L (p.Glu74Leu) variant of TTR (Transthyretin)
E74L (p.Glu74Leu) in TTR (Transthyretin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Amyloidosis, hereditary systemic 1; Cardiovascular phenotype. The record also includes published literature and structural context.
E74L (p.Glu74Leu) variant details
- p.Glu74Leu
- rs730881168
- ClinGen CA2580095592
- ClinVar RCV002294539
- ClinVar RCV002427758
- Pathogenic/Likely pathogenic
- Amyloidosis, hereditary systemic 1; Cardiovascular phenotype
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Amyloidosis, hereditary systemic 1; Cardiovascular phenotype)
- EBI: Pathogenic (in AMYLD1)
- UniProt: Pathogenic (in AMYLD1)
- Structural context available
- Cited in: Hereditary Transthyretin Amyloidosis. (PMID 20301373)
- Cited in: Repurposing diflunisal for familial amyloid polyneuropathy: a randomized clinical trial. (PMID 24368466)