E99D (p.Glu99Asp) variant of ADNP (Q9H2P0)
E99D (p.Glu99Asp) in ADNP (Q9H2P0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
E99D (p.Glu99Asp) variant details
- p.Glu99Asp
- gnomAD rs1359523797
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- CADD 23.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available