E74G (p.Glu74Gly) variant of TTR (Transthyretin)
E74G (p.Glu74Gly) in TTR (Transthyretin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not specified; not provided; Amyloidosis, hereditary systemic 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes published literature and structural context.
E74G (p.Glu74Gly) variant details
- p.Glu74Gly
- rs1598845097
- ClinGen CA402156928
- ClinVar RCV001002179
- ClinVar RCV001288933
- Pathogenic/Likely pathogenic
- not specified; not provided; Amyloidosis, hereditary systemic 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.762
- AlphaMissense 0.61
- MetaLR 0.93
- MetaSVM 1.06
- PolyPhen-2 0.98
- SIFT 0.01
- EVE 0.37
- ClinVar: Pathogenic/Likely pathogenic (not specified; not provided; Amyloidosis, hereditary systemic 1)
- EBI: Pathogenic (in AMYLD1)
- UniProt: Pathogenic (in AMYLD1)
- Structural context available
- Cited in: Transthyretin mutations in health and disease. (PMID 7599630)
- Cited in: Hereditary Transthyretin Amyloidosis. (PMID 20301373)