F215L (p.Phe215Leu) variant of FOXG1 (Forkhead box protein G1)
F215L (p.Phe215Leu) in FOXG1 (Forkhead box protein G1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; FOXG1 disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
F215L (p.Phe215Leu) variant details
- p.Phe215Leu
- rs1057518165
- ClinGen CA16042954
- ClinVar RCV000414314
- ClinVar RCV001069733
- Pathogenic
- not provided; FOXG1 disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.851
- AlphaMissense 1.00
- MetaLR 0.95
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.51
- ClinVar: Pathogenic (FOXG1 disorder)
- EBI: Pathogenic (in RTTCV)
- UniProt: Pathogenic (in RTTCV)
- Structural context available
- Cited in: Novel FOXG1 mutations associated with the congenital variant of Rett syndrome. (PMID 19578037)
- Cited in: FOXG1 Syndrome. (PMID 38843374)