R70H (p.Arg70His) variant of ADNP (Q9H2P0)
R70H (p.Arg70His) in ADNP (Q9H2P0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
R70H (p.Arg70His) variant details
- p.Arg70His
- rs770876855
- gnomAD 20-50889941-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.095
- CADD 2.02
- Most common in the Non-Finnish European population (allele frequency 7.4e-05)
- Structural context available
- Literature evidence available