A88D (p.Ala88Asp) variant of ADNP (Q9H2P0)
A88D (p.Ala88Asp) in ADNP (Q9H2P0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
A88D (p.Ala88Asp) variant details
- p.Ala88Asp
- gnomAD 20-50889869-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- CADD 9.95
- Population evidence available
- Structural context available
- Literature evidence available