F215I (p.Phe215Ile) variant of FOXG1 (Forkhead box protein G1)
F215I (p.Phe215Ile) 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 0.85 / 1. The record also includes published literature and structural context.
F215I (p.Phe215Ile) variant details
- p.Phe215Ile
- rs267606828
- ClinGen CA389475554
- ClinVar RCV003885406
- Likely pathogenic
- FOXG1 disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.852
- AlphaMissense 1.00
- MetaLR 0.95
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.51
- ClinVar: Likely pathogenic (FOXG1 disorder)
- EBI: Likely pathogenic (in RTTCV)
- UniProt: Likely pathogenic (in RTTCV)
- Structural context available
- Cited in: FOXG1 Syndrome. (PMID 38843374)