L16S (p.Leu16Ser) variant of SLC2A10 (O95528)
L16S (p.Leu16Ser) 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; Familial thoracic aortic aneurysm and aortic disse. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
L16S (p.Leu16Ser) variant details
- p.Leu16Ser
- rs2515585839
- ClinGen CA409266238
- ClinVar RCV002597315
- ClinVar RCV005281187
- Uncertain significance
- Arterial tortuosity syndrome; Familial thoracic aortic aneurysm and aortic disse
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- REVEL 0.36
- CADD 26.20
- PolyPhen-2 0.95
- SIFT 0.01
- ClinVar: Uncertain significance (Arterial tortuosity syndrome; Familial thoracic aortic aneurysm)
- 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)