G67E (p.Gly67Glu) variant of TTR (Transthyretin)
G67E (p.Gly67Glu) 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 0.75 / 1. The record also includes published literature and structural context.
G67E (p.Gly67Glu) variant details
- p.Gly67Glu
- rs121918090
- ClinGen CA402156882
- cosmic curated COSV52701
- ClinVar RCV000990082
- Pathogenic
- Amyloidosis, hereditary systemic 1; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.751
- AlphaMissense 0.28
- MetaLR 0.91
- MetaSVM 0.98
- PolyPhen-2 0.98
- SIFT 0.01
- MutPred 0.82
- ClinVar: Pathogenic (Amyloidosis, hereditary systemic 1; Cardiovascular phenotype)
- 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: Identification of transthyretin variants by sequential proteomic and genomic analysis. (PMID 15217993)