I46T (p.Ile46Thr) variant of TTR (Transthyretin)
I46T (p.Ile46Thr) 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 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
I46T (p.Ile46Thr) variant details
- p.Ile46Thr
- rs1598844137
- ClinGen CA402156697
- ClinVar RCV000791969
- gnomAD rs1598844137
- Uncertain significance
- Amyloidosis, hereditary systemic 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.28
- MetaLR 0.48
- MetaSVM -0.42
- CADD 3.04
- PolyPhen-2 0.01
- SIFT 0.88
- ClinVar: Uncertain significance (Amyloidosis, hereditary systemic 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)