R232C (p.Arg232Cys) variant of SLC2A1 (P11166)
R232C (p.Arg232Cys) in SLC2A1 (P11166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Encephalopathy due to GLUT1 deficiency; GLUT1 deficiency syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
R232C (p.Arg232Cys) variant details
- p.Arg232Cys
- rs387907313
- ClinGen CA019279
- NCI-TCGA Cosmic COSV6528
- ClinVar RCV000030841
- Pathogenic/Likely pathogenic
- not provided; Encephalopathy due to GLUT1 deficiency; GLUT1 deficiency syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.8
- REVEL 0.87
- CADD 29.50
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Encephalopathy due to GLUT1 deficiency; GLUT1 defi)
- 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: GLUT1 mutations are a rare cause of familial idiopathic generalized epilepsy. (PMID 22282645)
- Cited in: Glucose Transporter Type 1 Deficiency Syndrome. (PMID 20301603)