I69T (p.Ile69Thr) variant of SLC2A10 (O95528)
I69T (p.Ile69Thr) in SLC2A10 (O95528) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial thoracic aortic aneurysm and aortic dissection; Arterial tortuosity syn. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes published literature and structural context.
I69T (p.Ile69Thr) variant details
- p.Ile69Thr
- rs1979816863
- ClinGen CA409266557
- ClinVar RCV001370879
- ClinVar RCV004037484
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection; Arterial tortuosity syn
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- AlphaMissense 0.34
- MetaLR 0.42
- MetaSVM -0.41
- PolyPhen-2 0.99
- SIFT 0.00
- MutPred 0.67
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection; Arteria)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Evaluation of the adolescent or adult with some features of Marfan syndrome. (PMID 22237449)
- Cited in: 2014 ESC Guidelines on the diagnosis and treatment of aortic diseases: Document covering acute and chronic aortic… (PMID 25173340)