C71F (p.Cys71Phe) variant of SLC2A10 (O95528)
C71F (p.Cys71Phe) in SLC2A10 (O95528) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Familial thoracic aortic aneurysm and aortic dissection. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
C71F (p.Cys71Phe) variant details
- p.Cys71Phe
- rs377305511
- ClinGen CA9891930
- ClinVar RCV000522269
- ClinVar RCV004023594
- Uncertain significance
- not provided; Familial thoracic aortic aneurysm and aortic dissection
- Missense
- Variant Prioritization Score for Impact Estimate 0.159
- REVEL 0.14
- CADD 15.80
- PolyPhen-2 0.21
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Familial thoracic aortic aneurysm and aortic disse)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)
- Cited in: Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. (PMID 24882528)