R105C (p.Arg105Cys) variant of SLC2A10 (O95528)
R105C (p.Arg105Cys) 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; Familial thoracic aortic aneurysm and aortic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
R105C (p.Arg105Cys) variant details
- p.Arg105Cys
- rs767864243
- ClinGen CA249014
- ClinVar RCV000202447
- ClinVar RCV000202814
- Pathogenic/Likely pathogenic
- not provided; Familial aortopathy; Familial thoracic aortic aneurysm and aortic
- Missense
- Variant Prioritization Score for Impact Estimate 0.801
- REVEL 0.89
- CADD 25.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Familial aortopathy; Familial thoracic aortic aneu)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)