A116D (p.Ala116Asp) variant of ADNP (Q9H2P0)
A116D (p.Ala116Asp) in ADNP (Q9H2P0) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
A116D (p.Ala116Asp) variant details
- p.Ala116Asp
- gnomAD 20-50889839-G-GTA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.0966
- CADD 2.25
- Population evidence available
- Structural context available
- Literature evidence available