E54D (p.Glu54Asp) variant of SLC2A1 (P11166)
E54D (p.Glu54Asp) in SLC2A1 (P11166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes structural context.
E54D (p.Glu54Asp) variant details
- p.Glu54Asp
- rs2124450883
- ClinGen CA339962341
- ClinVar RCV001769069
- Ensembl rs2124450883
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- AlphaMissense 0.12
- MetaLR 0.35
- MetaSVM -0.49
- PolyPhen-2 0.01
- SIFT 0.30
- MutPred 0.44
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available