E437K (p.Glu437Lys) variant of SLC2A10 (O95528)
E437K (p.Glu437Lys) in SLC2A10 (O95528) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Thoracic aortic aneurysm or dissection; not provided; Familial thoracic aortic a. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
E437K (p.Glu437Lys) variant details
- p.Glu437Lys
- rs763220502
- ClinGen CA347770
- ClinVar RCV000202526
- ClinVar RCV000997785
- Pathogenic/Likely pathogenic
- Thoracic aortic aneurysm or dissection; not provided; Familial thoracic aortic a
- Missense
- Variant Prioritization Score for Impact Estimate 0.868
- REVEL 0.89
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Thoracic aortic aneurysm or dissection; not provided; Familial t)
- EBI: Pathogenic (in ATORS)
- UniProt: Pathogenic (in ATORS)
- Population evidence available
- Structural context available
- Cited in: Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families. (PMID 17935213)
- Cited in: Evaluation of the adolescent or adult with some features of Marfan syndrome. (PMID 22237449)