H92Q (p.His92Gln) variant of ADNP (Q9H2P0)
H92Q (p.His92Gln) in ADNP (Q9H2P0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
H92Q (p.His92Gln) variant details
- p.His92Gln
- gnomAD 20-50889934-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.567
- CADD 1.43
- Population evidence available
- Structural context available
- Literature evidence available