Q67* (p.Gln67Ter) variant of ADNP (Q9H2P0)
Q67* (p.Gln67Ter) in ADNP (Q9H2P0) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
Q67* (p.Gln67Ter) variant details
- p.Gln67Ter
- gnomAD 20-50889909-G-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.0976
- CADD 2.39
- Population evidence available
- Structural context available
- Literature evidence available