A57T (p.Ala57Thr) variant of TTR (Transthyretin)
A57T (p.Ala57Thr) 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 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
A57T (p.Ala57Thr) variant details
- p.Ala57Thr
- rs1380447419
- ClinGen CA402156820
- ClinVar RCV000647354
- gnomAD rs1380447419
- Uncertain significance
- Amyloidosis, hereditary systemic 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- REVEL 0.38
- MetaLR 0.81
- MetaSVM 0.60
- CADD 22.70
- PolyPhen-2 0.48
- SIFT 0.12
- 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)