G67V (p.Gly67Val) variant of TTR (Transthyretin)
G67V (p.Gly67Val) in TTR (Transthyretin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cardiovascular phenotype; Amyloidosis, hereditary systemic 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes published literature and structural context.
G67V (p.Gly67Val) variant details
- p.Gly67Val
- rs121918090
- ClinGen CA402156883
- ClinVar RCV001207386
- ClinVar RCV002418694
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; Amyloidosis, hereditary systemic 1
- 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/Likely pathogenic (Cardiovascular phenotype; Amyloidosis, hereditary systemic 1)
- 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)