K90* (p.Lys90Ter) variant of ADNP (Q9H2P0)
K90* (p.Lys90Ter) in ADNP (Q9H2P0) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
K90* (p.Lys90Ter) variant details
- p.Lys90Ter
- gnomAD 20-50889864-T-TA
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.151
- CADD 8.40
- Most common in the Ashkenazi Jewish population (allele frequency 0.00011)
- Structural context available
- Literature evidence available