R54G (p.Arg54Gly) variant of TTR (Transthyretin)
R54G (p.Arg54Gly) in TTR (Transthyretin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Amyloidosis, hereditary systemic 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes published literature and structural context.
R54G (p.Arg54Gly) variant details
- p.Arg54Gly
- rs1598844184
- ClinGen CA402156791
- ClinVar RCV000817566
- Ensembl rs1598844184
- Pathogenic
- Amyloidosis, hereditary systemic 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.661
- AlphaMissense 0.45
- MetaLR 0.91
- MetaSVM 0.71
- PolyPhen-2 0.10
- SIFT 0.00
- EVE 0.31
- ClinVar: Pathogenic (Amyloidosis, hereditary systemic 1)
- 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)