R132Q (p.Arg132Gln) variant of SLC2A10 (O95528)
R132Q (p.Arg132Gln) in SLC2A10 (O95528) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Arterial tortuosity syndrome; Familial aortopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
R132Q (p.Arg132Gln) variant details
- p.Arg132Gln
- rs376346077
- ClinGen CA9891969
- ClinVar RCV001837619
- ClinVar RCV002542811
- Conflicting interpretations
- not provided; Arterial tortuosity syndrome; Familial aortopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.87
- REVEL 0.90
- AlphaMissense 0.93
- MetaLR 0.85
- MetaSVM 0.99
- CADD 29.00
- PolyPhen-2 1.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Arterial tortuosity syndrome; Familial aortopathy)
- EBI: Pathogenic (in ATORS)
- UniProt: Pathogenic (in ATORS)
- 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)