K90E (p.Lys90Glu) variant of ADNP (Q9H2P0)
K90E (p.Lys90Glu) in ADNP (Q9H2P0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
K90E (p.Lys90Glu) variant details
- p.Lys90Glu
- rs552814913
- gnomAD 20-50889858-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- CADD 10.20
- Population evidence available
- Structural context available
- Literature evidence available