L61F (p.Leu61Phe) variant of SLC2A1 (P11166)
L61F (p.Leu61Phe) in SLC2A1 (P11166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of GLUT1 deficiency syndrome 1, autosomal recessive. The record also includes structural context.
L61F (p.Leu61Phe) variant details
- p.Leu61Phe
- rs2524999504
- ClinGen CA339962185
- ClinVar RCV003048589
- Uncertain significance
- GLUT1 deficiency syndrome 1, autosomal recessive
- Missense
- ClinVar: Uncertain significance (GLUT1 deficiency syndrome 1, autosomal recessive)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available