V56I (p.Val56Ile) variant of ADNP (Q9H2P0)
V56I (p.Val56Ile) in ADNP (Q9H2P0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
V56I (p.Val56Ile) variant details
- p.Val56Ile
- rs191245137
- gnomAD 20-50889945-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- CADD 6.91
- Population evidence available
- Structural context available
- Literature evidence available