A56D (p.Ala56Asp) variant of TTR (Transthyretin)
A56D (p.Ala56Asp) 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 0.57 / 1. The record also includes published literature and structural context.
A56D (p.Ala56Asp) variant details
- p.Ala56Asp
- rs2073494094
- ClinGen CA402156817
- ClinVar RCV001239365
- NCI-TCGA TCGA novel
- Pathogenic
- Amyloidosis, hereditary systemic 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.57
- AlphaMissense 0.17
- MetaLR 0.72
- MetaSVM 0.21
- PolyPhen-2 0.06
- SIFT 0.30
- MutPred 0.44
- ClinVar: Pathogenic (Amyloidosis, hereditary systemic 1)
- 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)