F215S (p.Phe215Ser) variant of FOXG1 (Forkhead box protein G1)
F215S (p.Phe215Ser) 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.
F215S (p.Phe215Ser) variant details
- p.Phe215Ser
- rs786204998
- ClinGen CA207940
- ClinVar RCV000170068
- ClinVar RCV000194042
- Pathogenic/Likely pathogenic
- FOXG1 disorder
- Missense
- ClinVar: Pathogenic/Likely pathogenic (FOXG1 disorder)
- EBI: Pathogenic (in RTTCV)
- UniProt: Pathogenic (in RTTCV)
- Structural context available
- Cited in: FOXG1 Syndrome. (PMID 38843374)