Q67R (p.Gln67Arg) variant of ADNP (Q9H2P0)
Q67R (p.Gln67Arg) in ADNP (Q9H2P0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
Q67R (p.Gln67Arg) variant details
- p.Gln67Arg
- gnomAD 20-50889908-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.539
- CADD 7.28
- Population evidence available
- Structural context available
- Literature evidence available