T71K (p.Thr71Lys) variant of ADNP (Q9H2P0)
T71K (p.Thr71Lys) in ADNP (Q9H2P0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
T71K (p.Thr71Lys) variant details
- p.Thr71Lys
- gnomAD 20-50889920-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- CADD 7.27
- Population evidence available
- Structural context available
- Literature evidence available