Q25K (p.Gln25Lys) variant of SLC2A1 (P11166)
Q25K (p.Gln25Lys) 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; not specified; Hereditary cryohydrocytosis with reduced. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
Q25K (p.Gln25Lys) variant details
- p.Gln25Lys
- rs1165759782
- ClinGen CA339964816
- ClinVar RCV000820791
- ClinVar RCV001507439
- Uncertain significance
- Inborn genetic diseases; not specified; Hereditary cryohydrocytosis with reduced
- Missense
- Variant Prioritization Score for Impact Estimate 0.853
- REVEL 0.90
- CADD 26.90
- PolyPhen-2 0.98
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases; not specified; Hereditary cryohydrocyto)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-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)