G23V (p.Gly23Val) variant of SLC2A10 (O95528)
G23V (p.Gly23Val) 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 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
G23V (p.Gly23Val) variant details
- p.Gly23Val
- rs1979801533
- ClinGen CA409266281
- ClinVar RCV003313765
- Likely pathogenic
- Arterial tortuosity syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.863
- REVEL 0.92
- CADD 27.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Arterial tortuosity syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)