D58V (p.Asp58Val) variant of TTR (Transthyretin)
D58V (p.Asp58Val) 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.
D58V (p.Asp58Val) variant details
- p.Asp58Val
- rs1598844213
- ClinGen CA402156831
- ClinVar RCV001975098
- Ensembl rs1598844213
- 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 (Amyloidosis, hereditary systemic 1)
- EBI: Pathogenic (in AMYLD1)
- UniProt: Pathogenic (in AMYLD1)
- Structural context available
- Cited in: Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis. (PMID 12050338)
- Cited in: Familial amyloidosis in a large Spanish kindred resulting from a D38V mutation in the transthyretin gene. (PMID 17635579)