G10C (p.Gly10Cys) variant of ADNP (Q9H2P0)
G10C (p.Gly10Cys) in ADNP (Q9H2P0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G10C (p.Gly10Cys) variant details
- p.Gly10Cys
- gnomAD rs1982231582
- Missense
- Variant Prioritization Score for Impact Estimate 0.777
- CADD 25.10
- PolyPhen-2 0.94
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- ADNP Homeobox domain domainome 1.0: score -0.155