D58H (p.Asp58His) variant of TTR (Transthyretin)
D58H (p.Asp58His) 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 0.70 / 1. The record also includes published literature and structural context.
D58H (p.Asp58His) variant details
- p.Asp58His
- rs2073494217
- ClinGen CA402156827
- ClinVar RCV001236265
- ClinVar RCV002402741
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; Amyloidosis, hereditary systemic 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.704
- AlphaMissense 0.33
- MetaLR 0.92
- MetaSVM 1.04
- PolyPhen-2 0.98
- SIFT 0.00
- EVE 0.32
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; 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)