R11C (p.Arg11Cys) variant of SLC2A1 (P11166)
R11C (p.Arg11Cys) in SLC2A1 (P11166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cryohydrocytosis with reduced stomatin; not provided; GLUT1 deficienc. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
R11C (p.Arg11Cys) variant details
- p.Arg11Cys
- rs1333609390
- ClinGen CA10590134
- ClinVar RCV000707535
- ClinVar RCV003141711
- Uncertain significance
- Hereditary cryohydrocytosis with reduced stomatin; not provided; GLUT1 deficienc
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.26
- CADD 23.70
- PolyPhen-2 0.00
- SIFT 0.17
- ClinVar: Uncertain significance (Hereditary cryohydrocytosis with reduced stomatin; not provided;)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-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)