M191R (p.Met191Arg) variant of FOXG1 (Forkhead box protein G1)
M191R (p.Met191Arg) 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 0.77 / 1. The record also includes published literature and structural context.
M191R (p.Met191Arg) variant details
- p.Met191Arg
- rs2138661161
- ClinGen CA389475389
- ClinVar RCV001785292
- Ensembl rs2138661161
- Likely pathogenic
- FOXG1 disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.766
- AlphaMissense 1.00
- MetaLR 0.83
- MetaSVM 0.76
- 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: Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders… (PMID 26993267)
- Cited in: FOXG1 Syndrome. (PMID 38843374)