M191L (p.Met191Leu) variant of FOXG1 (Forkhead box protein G1)
M191L (p.Met191Leu) 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 record also includes structural context.
M191L (p.Met191Leu) variant details
- p.Met191Leu
- NCI-TCGA Cosmic COSV1004
- Likely pathogenic
- FOXG1 disorder
- Missense
- ClinVar: Likely pathogenic (FOXG1 disorder)
- EBI: uncertain significance
- UniProt: Uncertain significance
- Structural context available