I207F (p.Ile207Phe) variant of FOXG1 (Forkhead box protein G1)
I207F (p.Ile207Phe) in FOXG1 (Forkhead box protein G1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of FOXG1 disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
I207F (p.Ile207Phe) variant details
- p.Ile207Phe
- rs2138661244
- ClinGen CA389475493
- ClinVar RCV002271869
- Ensembl rs2138661244
- Likely pathogenic
- FOXG1 disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.856
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.50
- ClinVar: Likely pathogenic (FOXG1 disorder)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: FOXG1 Syndrome. (PMID 38843374)