L300W (p.Leu300Trp) variant of SLC2A10 (O95528)
L300W (p.Leu300Trp) in SLC2A10 (O95528) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Familial aortopathy; Arterial tortuosity syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
L300W (p.Leu300Trp) variant details
- p.Leu300Trp
- rs771702107
- ClinGen CA9892065
- ClinVar RCV003334359
- ClinVar RCV004701025
- Pathogenic/Likely pathogenic
- Familial aortopathy; Arterial tortuosity syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.71
- REVEL 0.76
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Familial aortopathy; Arterial tortuosity syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)