F84L (p.Phe84Leu) variant of TTR (Transthyretin)
F84L (p.Phe84Leu) in TTR (Transthyretin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Charcot-Marie-Tooth disease; Amyloidosis, hereditary systemic 1; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
F84L (p.Phe84Leu) variant details
- p.Phe84Leu
- rs121918091
- ClinGen CA256847
- ClinVar RCV000014395
- ClinVar RCV000236623
- Pathogenic/Likely pathogenic
- Charcot-Marie-Tooth disease; Amyloidosis, hereditary systemic 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.738
- REVEL 0.84
- MetaLR 0.83
- MetaSVM 0.80
- CADD 24.60
- PolyPhen-2 0.82
- SIFT 0.03
- ClinVar: Pathogenic/Likely pathogenic (Charcot-Marie-Tooth disease; Amyloidosis, hereditary systemic 1;)
- EBI: Pathogenic (in AMYLD1)
- UniProt: Pathogenic (in AMYLD1)
- Population evidence available
- Structural context available
- Cited in: Characterization of transthyretin variants in familial transthyretin amyloidosis by mass spectrometric peptide mapping… (PMID 11866053)
- Cited in: Genetic microheterogeneity of human transthyretin detected by IEF. (PMID 17503405)