A39D (p.Ala39Asp) variant of TTR (Transthyretin)
A39D (p.Ala39Asp) in TTR (Transthyretin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cardiovascular phenotype; Amyloidosis, hereditary systemic 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
A39D (p.Ala39Asp) variant details
- p.Ala39Asp
- rs11541795
- ClinGen CA402156622
- ClinVar RCV000685149
- ClinVar RCV002331319
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; Amyloidosis, hereditary systemic 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.899
- AlphaMissense 0.90
- MetaLR 0.93
- MetaSVM 1.07
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.78
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; Amyloidosis, hereditary systemic 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Hereditary Transthyretin Amyloidosis. (PMID 20301373)
- Cited in: Repurposing diflunisal for familial amyloid polyneuropathy: a randomized clinical trial. (PMID 24368466)