F53L (p.Phe53Leu) variant of TTR (Transthyretin)
F53L (p.Phe53Leu) in TTR (Transthyretin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cardiovascular phenotype; not provided; Amyloidosis, hereditary systemic 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes published literature and structural context.
F53L (p.Phe53Leu) variant details
- p.Phe53Leu
- rs121918068
- ClinGen CA256851
- ClinVar RCV000014398
- ClinVar RCV001810860
- Pathogenic
- Cardiovascular phenotype; not provided; Amyloidosis, hereditary systemic 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.693
- AlphaMissense 0.82
- MetaLR 0.82
- MetaSVM 0.78
- PolyPhen-2 0.84
- SIFT 0.03
- EVE 0.13
- ClinVar: Pathogenic (Cardiovascular phenotype; not provided; Amyloidosis, hereditary)
- EBI: Pathogenic (in AMYLD1)
- UniProt: Pathogenic (in AMYLD1)
- Structural context available
- Cited in: Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis. (PMID 12050338)
- Cited in: Genetic microheterogeneity of human transthyretin detected by IEF. (PMID 17503405)