M77T (p.Met77Thr) variant of SLC2A1 (P11166)
M77T (p.Met77Thr) in SLC2A1 (P11166) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in EIG12. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
M77T (p.Met77Thr) variant details
- p.Met77Thr
- rs1187210267
- UniProt VAR 076228
- gnomAD rs1187210267
- Pathogenic
- in EIG12
- Missense
- Variant Prioritization Score for Impact Estimate 0.747
- REVEL 0.85
- CADD 24.00
- PolyPhen-2 0.36
- SIFT 0.02
- EBI: Pathogenic (in EIG12)
- UniProt: Pathogenic (in EIG12)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Glucose transporter 1 deficiency in the idiopathic generalized epilepsies. (PMID 23280796)
- Cited in: Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1. (PMID 19798636)