E48D (p.Glu48Asp) variant of SLC2A10 (O95528)
E48D (p.Glu48Asp) in SLC2A10 (O95528) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
E48D (p.Glu48Asp) variant details
- p.Glu48Asp
- ESP rs375145963
- TOPMed rs375145963
- gnomAD rs375145963
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- REVEL 0.57
- CADD 23.80
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available