R274P (p.Arg274Pro) variant of FOXG1 (Forkhead box protein G1)
R274P (p.Arg274Pro) in FOXG1 (Forkhead box protein G1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of FOXG1 disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes published literature and structural context.
R274P (p.Arg274Pro) variant details
- p.Arg274Pro
- rs869312700
- ClinGen CA389475942
- ClinVar RCV002002475
- Ensembl rs869312700
- Pathogenic
- FOXG1 disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.828
- AlphaMissense 1.00
- MetaLR 0.91
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.51
- ClinVar: Pathogenic (FOXG1 disorder)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: FOXG1 Syndrome. (PMID 38843374)