E48Q (p.Glu48Gln) variant of SLC2A10 (O95528)
E48Q (p.Glu48Gln) 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; not provided; Arterial. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
E48Q (p.Glu48Gln) variant details
- p.Glu48Gln
- rs1252274574
- ClinGen CA409266430
- ClinVar RCV000770701
- ClinVar RCV001592952
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection; not provided; Arterial
- Missense
- Variant Prioritization Score for Impact Estimate 0.719
- REVEL 0.67
- CADD 26.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection; not pro)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)