F84S (p.Phe84Ser) variant of TTR (Transthyretin)
F84S (p.Phe84Ser) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes published literature and structural context.
F84S (p.Phe84Ser) variant details
- p.Phe84Ser
- rs121918099
- ClinGen CA297739084
- ClinVar RCV001378794
- ClinVar RCV006437050
- Pathogenic
- Amyloidosis, hereditary systemic 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.821
- AlphaMissense 0.95
- MetaLR 0.93
- MetaSVM 1.06
- PolyPhen-2 0.98
- SIFT 0.01
- EVE 0.44
- ClinVar: Pathogenic (Amyloidosis, hereditary systemic 1; not provided)
- EBI: Pathogenic (in AMYLD1)
- UniProt: 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)