K90R (p.Lys90Arg) variant of ADNP (Q9H2P0)
K90R (p.Lys90Arg) in ADNP (Q9H2P0) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
K90R (p.Lys90Arg) variant details
- p.Lys90Arg
- gnomAD 20-50889856-CT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.345
- CADD 8.41
- Population evidence available
- Structural context available
- Literature evidence available