A57D (p.Ala57Asp) variant of TTR (Transthyretin)
A57D (p.Ala57Asp) in TTR (Transthyretin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Amyloidosis, hereditary systemic 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
A57D (p.Ala57Asp) variant details
- p.Ala57Asp
- rs1294297409
- ClinGen CA402156823
- ClinVar RCV001299780
- TOPMed rs1294297409
- Uncertain significance
- Amyloidosis, hereditary systemic 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- REVEL 0.40
- MetaLR 0.74
- MetaSVM 0.25
- CADD 18.80
- PolyPhen-2 0.07
- SIFT 0.10
- ClinVar: Uncertain significance (Amyloidosis, hereditary systemic 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Hereditary Transthyretin Amyloidosis. (PMID 20301373)
- Cited in: Repurposing diflunisal for familial amyloid polyneuropathy: a randomized clinical trial. (PMID 24368466)