R16Q (p.Arg16Gln) variant of ADNP (Q9H2P0)
R16Q (p.Arg16Gln) in ADNP (Q9H2P0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R16Q (p.Arg16Gln) variant details
- p.Arg16Gln
- cosmic curated COSV99050
- Missense
- Variant Prioritization Score for Impact Estimate 0.8
- CADD 28.20
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- ADNP Homeobox domain domainome 1.0: score -0.0959