Q46E (p.Gln46Glu) variant of SLC2A1 (P11166)
Q46E (p.Gln46Glu) in SLC2A1 (P11166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Hereditary cryohydrocytosis with reduced stomatin; GLUT1 deficienc. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
Q46E (p.Gln46Glu) variant details
- p.Gln46Glu
- rs754791604
- ClinGen CA803606
- ClinVar RCV000705361
- ClinVar RCV001759415
- Uncertain significance
- not provided; Hereditary cryohydrocytosis with reduced stomatin; GLUT1 deficienc
- Missense
- Variant Prioritization Score for Impact Estimate 0.196
- REVEL 0.10
- AlphaMissense 0.05
- MetaLR 0.07
- MetaSVM -0.95
- CADD 11.20
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (not provided; Hereditary cryohydrocytosis with reduced stomatin;)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 8.9e-05)
- 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)