L107P (p.Leu107Pro) variant of ADNP (Q9H2P0)
L107P (p.Leu107Pro) in ADNP (Q9H2P0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
L107P (p.Leu107Pro) variant details
- p.Leu107Pro
- gnomAD 20-50889827-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- CADD 3.44
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available
- Literature evidence available