L63R (p.Leu63Arg) variant of ADNP (Q9H2P0)
L63R (p.Leu63Arg) 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.
L63R (p.Leu63Arg) variant details
- p.Leu63Arg
- gnomAD 20-50889932-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- CADD 6.26
- Population evidence available
- Structural context available
- Literature evidence available