S113L (p.Ser113Leu) variant of SLC2A1 (P11166)
S113L (p.Ser113Leu) in SLC2A1 (P11166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Hereditary cryohydrocytosis with reduced stomatin; Epil. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
S113L (p.Ser113Leu) variant details
- p.Ser113Leu
- rs774348625
- ClinGen CA803555
- ClinVar RCV001221728
- ClinVar RCV002316104
- Uncertain significance
- Inborn genetic diseases; Hereditary cryohydrocytosis with reduced stomatin; Epil
- Missense
- Variant Prioritization Score for Impact Estimate 0.731
- REVEL 0.77
- AlphaMissense 0.78
- MetaLR 0.50
- MetaSVM 0.22
- CADD 23.60
- PolyPhen-2 0.78
- ClinVar: Uncertain significance (Inborn genetic diseases; Hereditary cryohydrocytosis with reduce)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 5.8e-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)