D68N (p.Asp68Asn) variant of ADNP (Q9H2P0)
D68N (p.Asp68Asn) in ADNP (Q9H2P0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
D68N (p.Asp68Asn) variant details
- p.Asp68Asn
- TOPMed rs1156714622
- gnomAD rs1156714622
- Missense
- Variant Prioritization Score for Impact Estimate 0.822
- CADD 30.00
- PolyPhen-2 0.99
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available