R230C (p.Arg230Cys) variant of FOXG1 (Forkhead box protein G1)
R230C (p.Arg230Cys) 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 Rett syndrome; FOXG1 disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
R230C (p.Arg230Cys) variant details
- p.Arg230Cys
- rs1594383704
- ClinGen CA389475653
- NCI-TCGA Cosmic COSV5739
- ClinVar RCV000989199
- Likely pathogenic
- Rett syndrome; FOXG1 disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.865
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.51
- ClinVar: Likely pathogenic (Rett syndrome; FOXG1 disorder)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: FOXG1 Syndrome. (PMID 38843374)
- Cited in: MECP2 Disorders. (PMID 20301670)