Q33* (p.Gln33Ter) variant of CNTNAP2 (Q9UHC6)
Q33* (p.Gln33Ter) in CNTNAP2 (Q9UHC6) 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 0.74 / 1. The record also includes population frequency data and structural context.
Q33* (p.Gln33Ter) variant details
- p.Gln33Ter
- TOPMed rs794726938
- gnomAD rs794726938
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.741
- CADD 41.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available