p.Leu103 Lys104del variant of ADNP (Q9H2P0)
p.Leu103 Lys104del in ADNP (Q9H2P0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
p.Leu103 Lys104del variant details
- gnomAD 20-50889847-CTTCA
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.403
- CADD 12.90
- Population evidence available
- Structural context available
- Literature evidence available