R201P (p.Arg201Pro) variant of FOXG1 (Forkhead box protein G1)
R201P (p.Arg201Pro) 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 FOXG1 disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes published literature and structural context.
R201P (p.Arg201Pro) variant details
- p.Arg201Pro
- rs2138661213
- ClinGen CA389475458
- ClinVar RCV001806440
- Ensembl rs2138661213
- Pathogenic/Likely pathogenic
- FOXG1 disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.82
- AlphaMissense 1.00
- MetaLR 0.91
- MetaSVM 0.95
- PolyPhen-2 1.00
- SIFT 0.02
- EVE 0.50
- ClinVar: Pathogenic/Likely pathogenic (FOXG1 disorder)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: FOXG1 Syndrome. (PMID 38843374)