R54T (p.Arg54Thr) variant of TTR (Transthyretin)
R54T (p.Arg54Thr) in TTR (Transthyretin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cardiovascular phenotype; Amyloidosis, hereditary systemic 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes published literature and structural context.
R54T (p.Arg54Thr) variant details
- p.Arg54Thr
- rs1598844187
- ClinGen CA402156799
- ClinVar RCV001042832
- Ensembl rs1598844187
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; Amyloidosis, hereditary systemic 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- AlphaMissense 0.08
- MetaLR 0.50
- MetaSVM -0.51
- PolyPhen-2 0.00
- SIFT 1.00
- EVE 0.11
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; Amyloidosis, hereditary systemic 1)
- EBI: Pathogenic (in AMYLD1)
- UniProt: Pathogenic (in AMYLD1)
- Structural context available
- Cited in: Novel transthyretin missense mutation (Thr34) in an Italian family with hereditary amyloidosis. (PMID 9605286)
- Cited in: Hereditary Transthyretin Amyloidosis. (PMID 20301373)