L107M (p.Leu107Met) variant of ADNP (Q9H2P0)
L107M (p.Leu107Met) 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.
L107M (p.Leu107Met) variant details
- p.Leu107Met
- gnomAD 20-50889828-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- CADD 9.55
- Population evidence available
- Structural context available
- Literature evidence available