L189F (p.Leu189Phe) variant of FOXG1 (Forkhead box protein G1)
L189F (p.Leu189Phe) 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 not provided; FOXG1 disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
L189F (p.Leu189Phe) variant details
- p.Leu189Phe
- rs1555321308
- ClinGen CA389475373
- ClinVar RCV001785291
- ClinVar RCV003120688
- Pathogenic
- not provided; FOXG1 disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.856
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.51
- ClinVar: Pathogenic (not provided; FOXG1 disorder)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: FOXG1 Syndrome. (PMID 38843374)