Q196P (p.Gln196Pro) variant of FOXG1 (Forkhead box protein G1)
Q196P (p.Gln196Pro) 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 0.81 / 1. The record also includes published literature and structural context.
Q196P (p.Gln196Pro) variant details
- p.Gln196Pro
- rs2138661191
- ClinGen CA389475420
- ClinVar RCV001928048
- Ensembl rs2138661191
- Pathogenic
- FOXG1 disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.805
- AlphaMissense 1.00
- MetaLR 0.90
- MetaSVM 0.96
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.51
- ClinVar: Pathogenic (FOXG1 disorder)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: FOXG1 Syndrome. (PMID 38843374)