F104C (p.Phe104Cys) variant of SLC2A1 (P11166)
F104C (p.Phe104Cys) in SLC2A1 (P11166) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
F104C (p.Phe104Cys) variant details
- p.Phe104Cys
- rs2524998256
- ClinGen CA2697552363
- ClinVar RCV003517688
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available