D58A (p.Asp58Ala) variant of TTR (Transthyretin)
D58A (p.Asp58Ala) in TTR (Transthyretin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Cardiovascular phenotype; Amyloidosis, hereditary systemic 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes published literature and structural context.
D58A (p.Asp58Ala) variant details
- p.Asp58Ala
- rs1598844213
- ClinGen CA402156829
- ClinVar RCV000797923
- ClinVar RCV002406755
- Pathogenic
- not provided; Cardiovascular phenotype; Amyloidosis, hereditary systemic 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.682
- AlphaMissense 0.25
- MetaLR 0.90
- MetaSVM 1.02
- PolyPhen-2 0.77
- SIFT 0.01
- EVE 0.35
- ClinVar: Pathogenic (not provided; Cardiovascular phenotype; Amyloidosis, hereditary)
- EBI: Pathogenic (in AMYLD1)
- UniProt: Pathogenic (in AMYLD1)
- Structural context available
- Cited in: Usefulness of MALDI/TOF mass spectrometry of immunoprecipitated serum variant transthyretin in the diagnosis of… (PMID 10611950)
- Cited in: Characterization of transthyretin variants in familial transthyretin amyloidosis by mass spectrometric peptide mapping… (PMID 11866053)