A188E (p.Ala188Glu) variant of FOXG1 (Forkhead box protein G1)
A188E (p.Ala188Glu) 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 Rett syndrome; 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.
A188E (p.Ala188Glu) variant details
- p.Ala188Glu
- rs587783638
- ClinGen CA389475369
- ClinVar RCV001194653
- ClinVar RCV005053973
- Likely pathogenic
- Rett syndrome; FOXG1 disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.816
- AlphaMissense 1.00
- MetaLR 0.89
- MetaSVM 0.96
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.50
- ClinVar: Likely pathogenic (Rett syndrome; FOXG1 disorder)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: FOXG1 Syndrome. (PMID 38843374)
- Cited in: MECP2 Disorders. (PMID 20301670)