T23M (p.Thr23Met) variant of TTR (Transthyretin)
T23M (p.Thr23Met) in TTR (Transthyretin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Carpal tunnel syndrome 1; Hyperthyroxinemia, dystransthyretinemic; Amyloidosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
T23M (p.Thr23Met) variant details
- p.Thr23Met
- rs377052919
- ClinGen CA132605
- ClinVar RCV000036378
- ClinVar RCV001071114
- Uncertain significance
- Carpal tunnel syndrome 1; Hyperthyroxinemia, dystransthyretinemic; Amyloidosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.23
- MetaLR 0.66
- MetaSVM -0.23
- CADD 2.16
- PolyPhen-2 0.00
- SIFT 0.24
- ClinVar: Uncertain significance (Carpal tunnel syndrome 1; Hyperthyroxinemia, dystransthyretinemi)
- 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)