T120A (p.Thr120Ala) variant of ADNP (Q9H2P0)
T120A (p.Thr120Ala) in ADNP (Q9H2P0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
T120A (p.Thr120Ala) variant details
- p.Thr120Ala
- Ensembl rs2122764375
- Missense
- Variant Prioritization Score for Impact Estimate 0.666
- CADD 25.60
- Population evidence available
- Structural context available