F49L (p.Phe49Leu) variant of SLC2A10 (O95528)
F49L (p.Phe49Leu) 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 0.33 / 1. The record also includes published literature and structural context.
F49L (p.Phe49Leu) variant details
- p.Phe49Leu
- rs1600666532
- ClinGen CA409266442
- ClinVar RCV000813114
- Ensembl rs1600666532
- Uncertain significance
- Arterial tortuosity syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- AlphaMissense 0.12
- MetaLR 0.12
- MetaSVM -0.98
- PolyPhen-2 0.00
- SIFT 1.00
- MutPred 0.51
- 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)