A116E (p.Ala116Glu) variant of ADNP (Q9H2P0)
A116E (p.Ala116Glu) in ADNP (Q9H2P0) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
A116E (p.Ala116Glu) variant details
- p.Ala116Glu
- gnomAD 20-50889841-T-TCG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.108
- CADD 3.81
- Population evidence available
- Structural context available
- Literature evidence available