F53I (p.Phe53Ile) variant of TTR (Transthyretin)
F53I (p.Phe53Ile) 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 0.69 / 1. The record also includes published literature and structural context.
F53I (p.Phe53Ile) variant details
- p.Phe53Ile
- rs121918068
- ClinGen CA256792
- ClinVar RCV000014360
- UniProt VAR 007555
- Pathogenic
- 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 (Amyloidosis, hereditary systemic 1)
- EBI: Pathogenic (in AMYLD1)
- UniProt: Pathogenic (in AMYLD1)
- Structural context available
- Cited in: Identification of carriers of a variant plasma prealbumin (transthyretin) associated with familial amyloidotic… (PMID 2981253)
- Cited in: A variant of prealbumin from amyloid fibrils in familial polyneuropathy of Jewish origin. (PMID 6168726)