T80I (p.Thr80Ile) variant of TTR (Transthyretin)
T80I (p.Thr80Ile) 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; not provided; Amyloidosis, hereditary systemic 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
T80I (p.Thr80Ile) variant details
- p.Thr80Ile
- rs1254341785
- ClinGen CA402156960
- NCI-TCGA Cosmic COSV5270
- cosmic curated COSV52701
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; not provided; Amyloidosis, hereditary systemic 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.632
- REVEL 0.67
- AlphaMissense 0.10
- MetaLR 0.78
- MetaSVM 0.45
- CADD 23.50
- PolyPhen-2 0.06
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; not provided; Amyloidosis, hereditary)
- EBI: Pathogenic (in AMYLD1)
- UniProt: Pathogenic (in AMYLD1)
- Population evidence available
- Structural context available
- Cited in: Hereditary Transthyretin Amyloidosis. (PMID 20301373)
- Cited in: Repurposing diflunisal for familial amyloid polyneuropathy: a randomized clinical trial. (PMID 24368466)