G252V (p.Gly252Val) variant of FOXG1 (Forkhead box protein G1)
G252V (p.Gly252Val) 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; Intellectual disability. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
G252V (p.Gly252Val) variant details
- p.Gly252Val
- rs587783640
- ClinGen CA172191
- ClinVar RCV000145994
- ClinVar RCV000170083
- Likely pathogenic
- FOXG1 disorder; Intellectual disability
- Missense
- Variant Prioritization Score for Impact Estimate 0.86
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.50
- ClinVar: Likely pathogenic (FOXG1 disorder; Intellectual disability)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: FOXG1 Syndrome. (PMID 38843374)
- Cited in: Evidence report: Genetic and metabolic testing on children with global developmental delay [RETIRED]: report of the… (PMID 21956720)