A88T (p.Ala88Thr) variant of ADNP (Q9H2P0)
A88T (p.Ala88Thr) in ADNP (Q9H2P0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
A88T (p.Ala88Thr) variant details
- p.Ala88Thr
- gnomAD 20-50889870-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- CADD 14.70
- Population evidence available
- Structural context available
- Literature evidence available