D39N (p.Asp39Asn) variant of SLC2A10 (O95528)
D39N (p.Asp39Asn) in SLC2A10 (O95528) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Arterial tortuosity syndrome; not specified; Familial thoracic aortic aneurysm a. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
D39N (p.Asp39Asn) variant details
- p.Asp39Asn
- rs367623970
- ClinGen CA9891915
- ClinVar RCV000816732
- ClinVar RCV002352435
- Uncertain significance
- Arterial tortuosity syndrome; not specified; Familial thoracic aortic aneurysm a
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.22
- CADD 20.40
- PolyPhen-2 0.04
- SIFT 0.48
- ClinVar: Uncertain significance (Arterial tortuosity syndrome; not specified; Familial thoracic a)
- 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)