E62D (p.Glu62Asp) variant of TTR (Transthyretin)
E62D (p.Glu62Asp) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
E62D (p.Glu62Asp) variant details
- p.Glu62Asp
- rs1340627860
- ClinGen CA402156859
- ClinVar RCV001379926
- gnomAD rs1340627860
- Pathogenic
- Amyloidosis, hereditary systemic 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- REVEL 0.53
- MetaLR 0.79
- MetaSVM 0.35
- CADD 14.90
- PolyPhen-2 0.03
- SIFT 0.12
- ClinVar: Pathogenic (Amyloidosis, hereditary systemic 1)
- EBI: Pathogenic (in AMYLD1)
- UniProt: Pathogenic (in AMYLD1)
- Population evidence available
- Structural context available
- Cited in: A novel variant of transthyretin (Glu42Asp) associated with sporadic late-onset cardiac amyloidosis. (PMID 10036587)
- Cited in: Hereditary Transthyretin Amyloidosis. (PMID 20301373)