G445R (p.Gly445Arg) variant of SLC2A10 (O95528)
G445R (p.Gly445Arg) in SLC2A10 (O95528) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Arterial tortuosity syndrome; Familial thoracic aortic aneurysm and aortic disse. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
G445R (p.Gly445Arg) variant details
- p.Gly445Arg
- Ensembl rs1600669456
- Uncertain significance
- Arterial tortuosity syndrome; Familial thoracic aortic aneurysm and aortic disse
- Missense
- Variant Prioritization Score for Impact Estimate 0.854
- REVEL 0.88
- CADD 30.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Arterial tortuosity syndrome; Familial thoracic aortic aneurysm)
- UniProt: Uncertain significance (in ATORS)
- Population evidence available
- Structural context available