Q67* (p.Gln67Ter) variant of FOXP2 (Forkhead box protein P2)
Q67* (p.Gln67Ter) in FOXP2 (Forkhead box protein P2) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
Q67* (p.Gln67Ter) variant details
- p.Gln67Ter
- ExAC rs759949520
- gnomAD rs759949520
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.852
- CADD 36.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available