L202F (p.Leu202Phe) variant of FOXG1 (Forkhead box protein G1)
L202F (p.Leu202Phe) in FOXG1 (Forkhead box protein G1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of FOXG1 disorder. The record also includes published literature and structural context.
L202F (p.Leu202Phe) variant details
- p.Leu202Phe
- rs2502226006
- ClinGen CA389475462
- ClinVar RCV002468862
- Pathogenic/Likely pathogenic
- FOXG1 disorder
- Missense
- ClinVar: Pathogenic/Likely pathogenic (FOXG1 disorder)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: FOXG1 Syndrome. (PMID 38843374)