A116T (p.Ala116Thr) variant of ADNP (Q9H2P0)
A116T (p.Ala116Thr) in ADNP (Q9H2P0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
A116T (p.Ala116Thr) variant details
- p.Ala116Thr
- gnomAD 20-50889840-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0861
- CADD 0.90
- Population evidence available
- Structural context available
- Literature evidence available