G271S (p.Gly271Ser) variant of FOXG1 (Forkhead box protein G1)
G271S (p.Gly271Ser) 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 0.78 / 1. The record also includes published literature and structural context.
G271S (p.Gly271Ser) variant details
- p.Gly271Ser
- rs1881809272
- ClinGen CA389475924
- ClinVar RCV001334376
- Ensembl rs1881809272
- Likely pathogenic
- FOXG1 disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.776
- AlphaMissense 1.00
- MetaLR 0.87
- MetaSVM 0.82
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.51
- ClinVar: Likely pathogenic (FOXG1 disorder)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: FOXG1 Syndrome. (PMID 38843374)