T69I (p.Thr69Ile) variant of TTR (Transthyretin)
T69I (p.Thr69Ile) 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 0.81 / 1. The record also includes published literature and structural context.
T69I (p.Thr69Ile) variant details
- p.Thr69Ile
- rs1555631387
- ClinGen CA16044074
- ClinVar RCV001942058
- ClinVar RCV004552134
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; Amyloidosis, hereditary systemic 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.809
- AlphaMissense 0.88
- MetaLR 0.98
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.30
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; Amyloidosis, hereditary systemic 1)
- EBI: Pathogenic (in AMYLD1)
- UniProt: Pathogenic (in AMYLD1)
- Structural context available
- Cited in: Identification of a new transthyretin variant (Ile49) in familial amyloidotic polyneuropathy using electrospray… (PMID 10436378)
- Cited in: Genetic microheterogeneity of human transthyretin detected by IEF. (PMID 17503405)