T63M (p.Thr63Met) variant of SLC2A1 (P11166)
T63M (p.Thr63Met) in SLC2A1 (P11166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Childhood onset GLUT1 deficiency syndrome 2; Epilepsy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
T63M (p.Thr63Met) variant details
- p.Thr63Met
- rs200828053
- ClinGen CA803597
- ClinVar RCV000476696
- ClinVar RCV000763915
- Conflicting interpretations
- Inborn genetic diseases; Childhood onset GLUT1 deficiency syndrome 2; Epilepsy
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.17
- CADD 20.70
- PolyPhen-2 0.03
- SIFT 0.79
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Childhood onset GLUT1 deficiency syndro)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Ashkenazi Jewish population (allele frequency 0.0012)
- Structural context available
- Cited in: Glucose Transporter Type 1 Deficiency Syndrome. (PMID 20301603)
- Cited in: EFNS guidelines on diagnosis and treatment of primary dystonias. (PMID 20482602)