C304W (p.Cys304Trp) variant of SLC2A10 (O95528)
C304W (p.Cys304Trp) in SLC2A10 (O95528) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic in the context of Arterial tortuosity syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
C304W (p.Cys304Trp) variant details
- p.Cys304Trp
- ExAC rs774901876
- TOPMed rs774901876
- gnomAD rs774901876
- Pathogenic
- Arterial tortuosity syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.459
- REVEL 0.61
- CADD 23.90
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Pathogenic (Arterial tortuosity syndrome)
- UniProt: Pathogenic
- Population evidence available
- Structural context available