T25I (p.Thr25Ile) variant of TTR (Transthyretin)
T25I (p.Thr25Ile) in TTR (Transthyretin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Amyloidosis, hereditary systemic 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes published literature and structural context.
T25I (p.Thr25Ile) variant details
- p.Thr25Ile
- rs2073492897
- ClinGen CA402156442
- ClinVar RCV001062159
- TOPMed rs2073492897
- Uncertain significance
- Amyloidosis, hereditary systemic 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.555
- AlphaMissense 0.11
- MetaLR 0.80
- MetaSVM 0.03
- PolyPhen-2 0.00
- SIFT 0.36
- MutPred 0.25
- ClinVar: Uncertain significance (Amyloidosis, hereditary systemic 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Hereditary Transthyretin Amyloidosis. (PMID 20301373)
- Cited in: Repurposing diflunisal for familial amyloid polyneuropathy: a randomized clinical trial. (PMID 24368466)