D38E (p.Asp38Glu) variant of TTR (Transthyretin)
D38E (p.Asp38Glu) 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; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
D38E (p.Asp38Glu) variant details
- p.Asp38Glu
- rs779619795
- ClinGen CA402156612
- ClinVar RCV001904544
- ClinVar RCV003299056
- Pathogenic
- Amyloidosis, hereditary systemic 1; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.888
- AlphaMissense 0.97
- MetaLR 0.96
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.61
- ClinVar: Pathogenic (Amyloidosis, hereditary systemic 1; Cardiovascular phenotype)
- EBI: Pathogenic (in AMYLD1)
- UniProt: Pathogenic (in AMYLD1)
- Structural context available
- Cited in: Transthyretin mutations in health and disease. (PMID 7599630)
- Cited in: Hereditary Transthyretin Amyloidosis. (PMID 20301373)