G67A (p.Gly67Ala) variant of TTR (Transthyretin)
G67A (p.Gly67Ala) in TTR (Transthyretin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cardiovascular phenotype; not provided; 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.
G67A (p.Gly67Ala) variant details
- p.Gly67Ala
- rs121918090
- ClinGen CA256845
- ClinVar RCV000014393
- ClinVar RCV000516227
- Pathogenic
- Cardiovascular phenotype; not provided; 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 (Cardiovascular phenotype; not provided; Amyloidosis, hereditary)
- EBI: Pathogenic (in AMYLD1)
- UniProt: Pathogenic (in AMYLD1)
- Structural context available
- Cited in: Mutation and transcription analysis of transthyretin gene in Italian families with hereditary amyloidosis: a putative… (PMID 10845569)
- Cited in: Genetic microheterogeneity of human transthyretin detected by IEF. (PMID 17503405)