Q243K (p.Gln243Lys) variant of SLC2A10 (O95528)
Q243K (p.Gln243Lys) in SLC2A10 (O95528) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Arterial tortuosity syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
Q243K (p.Gln243Lys) variant details
- p.Gln243Lys
- rs1434246419
- ClinGen CA409267924
- ClinVar RCV001993032
- TOPMed rs1434246419
- Likely pathogenic
- Arterial tortuosity syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.853
- REVEL 0.91
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Arterial tortuosity syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)