A88E (p.Ala88Glu) variant of ADNP (Q9H2P0)
A88E (p.Ala88Glu) in ADNP (Q9H2P0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
A88E (p.Ala88Glu) variant details
- p.Ala88Glu
- gnomAD 20-50889905-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.207
- CADD 3.40
- Population evidence available
- Structural context available
- Literature evidence available