Y218C (p.Tyr218Cys) variant of FOXG1 (Forkhead box protein G1)
Y218C (p.Tyr218Cys) in FOXG1 (Forkhead box protein G1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; FOXG1 disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
Y218C (p.Tyr218Cys) variant details
- p.Tyr218Cys
- rs1881804364
- ClinGen CA389475575
- ClinVar RCV001249640
- ClinVar RCV001664782
- Pathogenic/Likely pathogenic
- not provided; FOXG1 disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.858
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.50
- ClinVar: Pathogenic/Likely pathogenic (not provided; FOXG1 disorder)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: FOXG1 Syndrome. (PMID 38843374)