G5* (p.Gly5Ter) variant of FOXG1 (Forkhead box protein G1)
G5* (p.Gly5Ter) in FOXG1 (Forkhead box protein G1) is a protein-truncating change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
G5* (p.Gly5Ter) variant details
- p.Gly5Ter
- NCI-TCGA Cosmic COSV1004
- Ensembl rs2138659880
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.681
- CADD 34.00
- UniProt: Variant assessed as somatic; high impact.
- Most common in the East Asian population (allele frequency 4e-05)
- Structural context available