R54S (p.Arg54Ser) variant of TTR (Transthyretin)
R54S (p.Arg54Ser) in TTR (Transthyretin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; Amyloidosis, hereditary systemic 1. The record also includes published literature and structural context.
R54S (p.Arg54Ser) variant details
- p.Arg54Ser
- rs2510932394
- ClinGen CA402156801
- ClinVar RCV002401230
- ClinVar RCV005097647
- Conflicting interpretations
- Cardiovascular phenotype; Amyloidosis, hereditary systemic 1
- Missense
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Amyloidosis, hereditary systemic 1)
- EBI: Likely pathogenic (in AMYLD1)
- UniProt: Likely 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)