S66F (p.Ser66Phe) variant of SLC2A1 (P11166)
S66F (p.Ser66Phe) in SLC2A1 (P11166) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in GLUT1DS1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes published literature and structural context.
S66F (p.Ser66Phe) variant details
- p.Ser66Phe
- rs80359813
- UniProt VAR 013283
- Ensembl rs80359813
- Pathogenic
- in GLUT1DS1
- Missense
- Variant Prioritization Score for Impact Estimate 0.819
- AlphaMissense 0.95
- MetaLR 0.75
- MetaSVM 0.74
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.87
- EBI: Pathogenic (in GLUT1DS1)
- UniProt: Pathogenic (in GLUT1DS1)
- Structural context available
- Cited in: Mutational analysis of GLUT1 (SLC2A1) in Glut-1 deficiency syndrome. (PMID 10980529)
- Cited in: Defective glucose transport across brain tissue barriers: a newly recognized neurological syndrome. (PMID 10227690)