G23D (p.Gly23Asp) variant of SLC2A10 (O95528)
G23D (p.Gly23Asp) in SLC2A10 (O95528) is a missense change. Clinical records from ClinVar 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 0.87 / 1. The record also includes population frequency data and structural context.
G23D (p.Gly23Asp) variant details
- p.Gly23Asp
- TOPMed rs1979801533
- gnomAD rs1979801533
- Likely pathogenic
- Arterial tortuosity syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.871
- REVEL 0.93
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Arterial tortuosity syndrome)
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available