L235F (p.Leu235Phe) variant of FOXG1 (Forkhead box protein G1)
L235F (p.Leu235Phe) 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 Neurodevelopmental disorder; FOXG1 disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes published literature and structural context.
L235F (p.Leu235Phe) variant details
- p.Leu235Phe
- rs1566445489
- ClinGen CA389475681
- ClinVar RCV000706347
- ClinVar RCV001374989
- Pathogenic/Likely pathogenic
- Neurodevelopmental disorder; FOXG1 disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.841
- AlphaMissense 1.00
- MetaLR 0.93
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.50
- ClinVar: Pathogenic/Likely pathogenic (Neurodevelopmental disorder; FOXG1 disorder)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: FOXG1 Syndrome. (PMID 38843374)