G57E (p.Gly57Glu) variant of ADNP (Q9H2P0)
G57E (p.Gly57Glu) in ADNP (Q9H2P0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
G57E (p.Gly57Glu) variant details
- p.Gly57Glu
- gnomAD 20-50889860-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- CADD 8.08
- Most common in the Non-Finnish European population (allele frequency 1.3e-05)
- Structural context available
- Literature evidence available