E2D (p.Glu2Asp) variant of SLC2A1 (P11166)
E2D (p.Glu2Asp) in SLC2A1 (P11166) 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 0.34 / 1. The record also includes population frequency data and structural context.
E2D (p.Glu2Asp) variant details
- p.Glu2Asp
- gnomAD rs1271529267
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.30
- CADD 15.10
- PolyPhen-2 0.00
- SIFT 0.57
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available