Q46* (p.Gln46Ter) variant of SLC2A1 (P11166)
Q46* (p.Gln46Ter) in SLC2A1 (P11166) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes published literature and structural context.
Q46* (p.Gln46Ter) variant details
- p.Gln46Ter
- rs754791604
- ClinGen CA339962533
- ClinVar RCV001647242
- ClinVar RCV003517326
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.293
- AlphaMissense 0.05
- MetaLR 0.07
- MetaSVM -0.95
- PolyPhen-2 0.00
- SIFT 1.00
- EVE 0.06
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Glucose Transporter Type 1 Deficiency Syndrome. (PMID 20301603)