G445E (p.Gly445Glu) variant of SLC2A10 (O95528)
G445E (p.Gly445Glu) 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 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
G445E (p.Gly445Glu) variant details
- p.Gly445Glu
- rs753723351
- ClinGen CA347725
- ClinVar RCV000202473
- UniProt VAR 042424
- Likely pathogenic
- Arterial tortuosity syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.835
- REVEL 0.85
- CADD 29.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Arterial tortuosity syndrome)
- 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)