T60M (p.Thr60Met) variant of SLC2A1 (P11166)
T60M (p.Thr60Met) in SLC2A1 (P11166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; not provided; GLUT1 deficiency syndrome 1, autosomal recessive. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
T60M (p.Thr60Met) variant details
- p.Thr60Met
- rs142986731
- ClinGen CA803599
- ClinVar RCV000476048
- ClinVar RCV000593978
- Conflicting interpretations
- not specified; not provided; GLUT1 deficiency syndrome 1, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.577
- REVEL 0.54
- CADD 22.60
- PolyPhen-2 0.15
- SIFT 0.13
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided; GLUT1 deficiency syndrome 1, autoso)
- EBI: Likely benign (in EIG12)
- UniProt: Likely benign (in EIG12)
- Most common in the Middle Eastern population (allele frequency 0.00069)
- Structural context available
- Cited in: Glucose transporter 1 deficiency in the idiopathic generalized epilepsies. (PMID 23280796)
- Cited in: Wilms Tumor Predisposition. (PMID 20301471)