F104L (p.Phe104Leu) variant of SLC2A1 (P11166)
F104L (p.Phe104Leu) in SLC2A1 (P11166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign 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 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
F104L (p.Phe104Leu) variant details
- p.Phe104Leu
- rs76672402
- ClinGen CA803560
- ClinVar RCV000311944
- ClinVar RCV000350448
- Benign/Likely benign
- Inborn genetic diseases; Hereditary cryohydrocytosis with reduced stomatin; Epil
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.36
- CADD 9.46
- PolyPhen-2 0.01
- SIFT 0.52
- ClinVar: Benign/Likely benign (Inborn genetic diseases; Hereditary cryohydrocytosis with reduce)
- EBI: Benign
- UniProt: Benign
- Most common in the Ashkenazi Jewish population (allele frequency 0.0043)
- 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)