P35L (p.Pro35Leu) variant of SLC2A10 (O95528)
P35L (p.Pro35Leu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
P35L (p.Pro35Leu) variant details
- p.Pro35Leu
- rs758877524
- ClinGen CA9891913
- ClinVar RCV001042682
- ExAC rs758877524
- Uncertain significance
- Arterial tortuosity syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- REVEL 0.14
- CADD 20.10
- PolyPhen-2 0.02
- SIFT 0.19
- ClinVar: Uncertain significance (Arterial tortuosity syndrome)
- 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)