T71M (p.Thr71Met) variant of ADNP (Q9H2P0)
T71M (p.Thr71Met) in ADNP (Q9H2P0) is a missense 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.
T71M (p.Thr71Met) variant details
- p.Thr71Met
- rs566404407
- gnomAD 20-50889929-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0813
- CADD 0.09
- Most common in the 1KG:IBS population (allele frequency 0.0048)
- Structural context available
- Literature evidence available