F22C (p.Phe22Cys) variant of SLC2A10 (O95528)
F22C (p.Phe22Cys) 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 0.80 / 1. The record also includes published literature and structural context.
F22C (p.Phe22Cys) variant details
- p.Phe22Cys
- rs1060502313
- ClinGen CA16616226
- ClinVar RCV000462934
- Ensembl rs1060502313
- Uncertain significance
- Arterial tortuosity syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.796
- AlphaMissense 0.75
- MetaLR 0.72
- MetaSVM 0.69
- PolyPhen-2 1.00
- SIFT 0.01
- MutPred 0.79
- 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)