R93Q (p.Arg93Gln) variant of SLC2A1 (P11166)
R93Q (p.Arg93Gln) 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; GLUT1 deficiency syndrome 1, autosomal recessive; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
R93Q (p.Arg93Gln) variant details
- p.Arg93Gln
- rs80359815
- ClinGen CA21252168
- ClinVar RCV000761655
- ClinVar RCV001387742
- Conflicting interpretations
- not specified; GLUT1 deficiency syndrome 1, autosomal recessive; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.739
- REVEL 0.70
- CADD 25.50
- PolyPhen-2 0.52
- SIFT 0.14
- ClinVar: Conflicting classifications of pathogenicity (not specified; GLUT1 deficiency syndrome 1, autosomal recessive;)
- EBI: Pathogenic (in GLUT1DS2)
- UniProt: Pathogenic (in GLUT1DS2)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available