A58V (p.Ala58Val) variant of SLC2A10 (O95528)
A58V (p.Ala58Val) 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 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
A58V (p.Ala58Val) variant details
- p.Ala58Val
- rs141310869
- ClinGen CA315755244
- ClinVar RCV001138753
- ClinVar RCV004671227
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection; Arterial tortuosity syn
- Missense
- Variant Prioritization Score for Impact Estimate 0.589
- REVEL 0.65
- CADD 24.30
- PolyPhen-2 0.93
- SIFT 0.00
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection; Arteria)
- 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)