R132L (p.Arg132Leu) variant of SLC2A10 (O95528)
R132L (p.Arg132Leu) in SLC2A10 (O95528) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Arterial tortuosity syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
R132L (p.Arg132Leu) variant details
- p.Arg132Leu
- rs376346077
- ClinGen CA409266928
- ClinVar RCV000644031
- 1000Genomes rs376346077
- Likely pathogenic
- Arterial tortuosity syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.896
- AlphaMissense 0.93
- MetaLR 0.85
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.86
- ClinVar: Likely pathogenic (Arterial tortuosity syndrome)
- 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)