A35S (p.Ala35Ser) variant of SLC2A1 (P11166)
A35S (p.Ala35Ser) 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 specified; Epilepsy, idio. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
A35S (p.Ala35Ser) variant details
- p.Ala35Ser
- rs796053245
- ClinGen CA318417
- ClinVar RCV000189347
- ClinVar RCV002517016
- Uncertain significance
- Hereditary cryohydrocytosis with reduced stomatin; not specified; Epilepsy, idio
- Missense
- Variant Prioritization Score for Impact Estimate 0.662
- REVEL 0.59
- CADD 25.70
- PolyPhen-2 0.21
- SIFT 0.02
- ClinVar: Uncertain significance (Hereditary cryohydrocytosis with reduced stomatin; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-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)