G17* (p.Gly17Ter) variant of SLC2A1 (P11166)
G17* (p.Gly17Ter) 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 0.56 / 1. The record also includes published literature and structural context.
G17* (p.Gly17Ter) variant details
- p.Gly17Ter
- rs1345986424
- ClinGen CA339964861
- ClinVar RCV000502046
- gnomAD rs1345986424
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.559
- AlphaMissense 0.97
- MetaLR 0.59
- MetaSVM -0.04
- PolyPhen-2 0.03
- SIFT 0.22
- EVE 0.71
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Glucose Transporter Type 1 Deficiency Syndrome. (PMID 20301603)