F127V (p.Phe127Val) variant of SLC2A1 (P11166)
F127V (p.Phe127Val) in SLC2A1 (P11166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Epilepsy, idiopathic generalized, susceptibility to, 12. The record also includes structural context.
F127V (p.Phe127Val) variant details
- p.Phe127Val
- rs2524997985
- ClinGen CA339960968
- ClinVar RCV003990805
- Uncertain significance
- Epilepsy, idiopathic generalized, susceptibility to, 12
- Missense
- ClinVar: Uncertain significance (Epilepsy, idiopathic generalized, susceptibility to, 12)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available