S81R (p.Ser81Arg) variant of SLC2A10 (O95528)
S81R (p.Ser81Arg) in SLC2A10 (O95528) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Familial aortopathy; Arterial tortuosity syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
S81R (p.Ser81Arg) variant details
- p.Ser81Arg
- rs80358230
- ClinGen CA340266
- ClinVar RCV000004850
- ClinVar RCV000498947
- Pathogenic/Likely pathogenic
- not provided; Familial aortopathy; Arterial tortuosity syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.678
- REVEL 0.78
- CADD 25.40
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Familial aortopathy; Arterial tortuosity syndrome)
- EBI: Pathogenic (in ATORS)
- UniProt: Pathogenic (in ATORS)
- Population evidence available
- Structural context available
- Cited in: A new type of Ehlers-Danlos syndrome associated with tortuous systemic arteries in a large kindred from Qatar. (PMID 12801113)
- Cited in: Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome. (PMID 16550171)