Q29* (p.Gln29Ter) variant of FOXG1 (Forkhead box protein G1)
Q29* (p.Gln29Ter) in FOXG1 (Forkhead box protein G1) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
Q29* (p.Gln29Ter) variant details
- p.Gln29Ter
- rs2502223575
- ClinGen CA389474348
- ClinVar RCV002292885
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.699
- CADD 35.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available