E81G (p.Glu81Gly) variant of TTR (Transthyretin)
E81G (p.Glu81Gly) in TTR (Transthyretin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Cardiovascular phenotype; Amyloidosis, hereditary systemic 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes published literature and structural context.
E81G (p.Glu81Gly) variant details
- p.Glu81Gly
- rs1567946170
- ClinGen CA402156964
- ClinVar RCV000693859
- ClinVar RCV002442455
- Likely pathogenic
- Cardiovascular phenotype; Amyloidosis, hereditary systemic 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- AlphaMissense 0.12
- MetaLR 0.70
- MetaSVM -0.07
- PolyPhen-2 0.33
- SIFT 0.08
- EVE 0.18
- ClinVar: Likely pathogenic (Cardiovascular phenotype; Amyloidosis, hereditary systemic 1)
- EBI: Pathogenic (in AMYLD1)
- UniProt: Pathogenic (in AMYLD1)
- Structural context available
- Cited in: A new transthyretin variant (Glu61Gly) associated with cardiomyopathy. (PMID 17453626)
- Cited in: Hereditary Transthyretin Amyloidosis. (PMID 20301373)