G73R (p.Gly73Arg) variant of TTR (Transthyretin)
G73R (p.Gly73Arg) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
G73R (p.Gly73Arg) variant details
- p.Gly73Arg
- rs2144409459
- ClinGen CA402156920
- ClinVar RCV001378793
- ClinVar RCV005513039
- Pathogenic/Likely pathogenic
- Amyloidosis, hereditary systemic 1; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.963
- AlphaMissense 0.96
- MetaLR 0.99
- MetaSVM 0.97
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.89
- 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)