G2A (p.Gly2Ala) variant of SLC2A10 (O95528)
G2A (p.Gly2Ala) 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 0.46 / 1. The record also includes published literature and structural context.
G2A (p.Gly2Ala) variant details
- p.Gly2Ala
- rs1555887782
- ClinGen CA409266069
- ClinVar RCV000529596
- TOPMed rs1555887782
- Uncertain significance
- Arterial tortuosity syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- AlphaMissense 0.07
- MetaLR 0.47
- MetaSVM -0.29
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.32
- ClinVar: Uncertain significance (Arterial tortuosity syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)