F53V (p.Phe53Val) variant of TTR (Transthyretin)
F53V (p.Phe53Val) in TTR (Transthyretin) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in AMYLD1. The record also includes variant effect predictions, published literature, and structural context.
F53V (p.Phe53Val) variant details
- p.Phe53Val
- UniProt VAR 038964
- Pathogenic
- in AMYLD1
- Missense
- MetaLR 0.93
- MetaSVM 1.05
- SIFT 0.03
- EBI: Pathogenic (in AMYLD1)
- UniProt: Pathogenic (in AMYLD1)
- Structural context available
- Cited in: Usefulness of MALDI/TOF mass spectrometry of immunoprecipitated serum variant transthyretin in the diagnosis of… (PMID 10611950)
- Cited in: Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis. (PMID 12050338)