A188G (p.Ala188Gly) variant of FOXG1 (Forkhead box protein G1)
A188G (p.Ala188Gly) 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 0.82 / 1. The record also includes published literature and structural context.
A188G (p.Ala188Gly) variant details
- p.Ala188Gly
- rs587783638
- ClinGen CA172187
- ClinVar RCV000145992
- ClinVar RCV000170068
- Pathogenic
- 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: Pathogenic (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: FOXG1 Syndrome. (PMID 38843374)