R70Q (p.Arg70Gln) variant of ADNP (Q9H2P0)
R70Q (p.Arg70Gln) in ADNP (Q9H2P0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
R70Q (p.Arg70Gln) variant details
- p.Arg70Gln
- ExAC rs749754079
- gnomAD rs749754079
- Missense
- Variant Prioritization Score for Impact Estimate 0.808
- CADD 28.60
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available