L55P (p.Leu55Pro) variant of SLC2A10 (O95528)
L55P (p.Leu55Pro) 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 0.56 / 1. The record also includes published literature and structural context.
L55P (p.Leu55Pro) variant details
- p.Leu55Pro
- rs1555887820
- ClinGen CA409266476
- ClinVar RCV000583694
- ClinVar RCV002530826
- Uncertain significance
- Arterial tortuosity syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.556
- AlphaMissense 0.26
- MetaLR 0.57
- MetaSVM 0.18
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.61
- 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)