G224S (p.Gly224Ser) variant of FOXG1 (Forkhead box protein G1)
G224S (p.Gly224Ser) 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 0.82 / 1. The record also includes published literature and structural context.
G224S (p.Gly224Ser) variant details
- p.Gly224Ser
- rs727503935
- ClinGen CA234034
- ClinVar RCV000153265
- ClinVar RCV000500932
- Likely pathogenic
- FOXG1 disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.819
- AlphaMissense 1.00
- MetaLR 0.91
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.50
- ClinVar: Likely pathogenic (FOXG1 disorder)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: FOXG1 Syndrome. (PMID 38843374)
- Cited in: MECP2 Disorders. (PMID 20301670)