L55F (p.Leu55Phe) variant of SLC2A10 (O95528)
L55F (p.Leu55Phe) in SLC2A10 (O95528) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Familial thoracic aortic aneurysm and aortic dissection; Arterial. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
L55F (p.Leu55Phe) variant details
- p.Leu55Phe
- rs745611450
- ClinGen CA9891922
- ClinVar RCV000488998
- ClinVar RCV002523409
- Uncertain significance
- not provided; Familial thoracic aortic aneurysm and aortic dissection; Arterial
- Missense
- Variant Prioritization Score for Impact Estimate 0.694
- REVEL 0.71
- CADD 24.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Familial thoracic aortic aneurysm and aortic disse)
- 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)