T113D (p.Thr113Asp) variant of ADNP (Q9H2P0)
T113D (p.Thr113Asp) in ADNP (Q9H2P0) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
T113D (p.Thr113Asp) variant details
- p.Thr113Asp
- rs1980472177
- gnomAD 20-50889835-C-CA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.0831
- CADD 0.61
- Most common in the East Asian population (allele frequency 0.00061)
- Structural context available
- Literature evidence available