G250S (p.Gly250Ser) variant of FOXG1 (Forkhead box protein G1)
G250S (p.Gly250Ser) 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 0.85 / 1. The record also includes published literature and structural context.
G250S (p.Gly250Ser) variant details
- p.Gly250Ser
- rs2138661461
- ClinGen CA389475782
- ClinVar RCV003152193
- ClinVar RCV003514609
- Likely pathogenic
- FOXG1 disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.853
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.11
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.51
- ClinVar: Likely pathogenic (FOXG1 disorder)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: FOXG1 Syndrome. (PMID 38843374)