G65C (p.Gly65Cys) variant of SLC2A10 (O95528)
G65C (p.Gly65Cys) 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 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
G65C (p.Gly65Cys) variant details
- p.Gly65Cys
- rs1979815162
- ClinGen CA409266529
- ClinVar RCV001048260
- Ensembl rs1979815162
- Uncertain significance
- Arterial tortuosity syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.742
- REVEL 0.71
- CADD 27.20
- PolyPhen-2 1.00
- SIFT 0.00
- 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)