G267S (p.Gly267Ser) variant of FOXG1 (Forkhead box protein G1)
G267S (p.Gly267Ser) 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 FOXG1 disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes published literature and structural context.
G267S (p.Gly267Ser) variant details
- p.Gly267Ser
- rs587783643
- ClinGen CA172199
- ClinVar RCV000145998
- ClinVar RCV000480864
- Pathogenic
- FOXG1 disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.792
- AlphaMissense 1.00
- MetaLR 0.88
- MetaSVM 0.97
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.50
- ClinVar: Pathogenic (FOXG1 disorder)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: FOXG1 Syndrome. (PMID 38843374)