T113R (p.Thr113Arg) variant of ADNP (Q9H2P0)
T113R (p.Thr113Arg) 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.
T113R (p.Thr113Arg) variant details
- p.Thr113Arg
- rs1980471951
- gnomAD 20-50889833-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.0863
- CADD 0.87
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available
- Literature evidence available