R231W (p.Arg231Trp) variant of SLC2A10 (O95528)
R231W (p.Arg231Trp) 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 thoracic aortic aneurysm and aortic dissection; Arterial. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
R231W (p.Arg231Trp) variant details
- p.Arg231Trp
- rs146579504
- ClinGen CA319966
- ClinVar RCV000195605
- ClinVar RCV000202453
- Pathogenic/Likely pathogenic
- not provided; Familial thoracic aortic aneurysm and aortic dissection; Arterial
- Missense
- Variant Prioritization Score for Impact Estimate 0.634
- REVEL 0.76
- CADD 24.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Familial thoracic aortic aneurysm and aortic disse)
- 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)