Q46H (p.Gln46His) variant of SLC2A1 (P11166)
Q46H (p.Gln46His) in SLC2A1 (P11166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Hereditary cryohydrocytosis with reduced stomatin; Epilepsy, idiopathic generali. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
Q46H (p.Gln46His) variant details
- p.Gln46His
- rs149998596
- ClinGen CA318421
- ClinVar RCV000865433
- ClinVar RCV001096621
- Benign
- Hereditary cryohydrocytosis with reduced stomatin; Epilepsy, idiopathic generali
- Missense
- Variant Prioritization Score for Impact Estimate 0.194
- REVEL 0.08
- CADD 17.40
- PolyPhen-2 0.00
- SIFT 0.10
- ClinVar: Benign (Hereditary cryohydrocytosis with reduced stomatin; Epilepsy, idi)
- EBI: Benign
- UniProt: Benign
- Most common in the Ashkenazi Jewish population (allele frequency 0.0049)
- 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)