G57R (p.Gly57Arg) variant of ADNP (Q9H2P0)
G57R (p.Gly57Arg) in ADNP (Q9H2P0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
G57R (p.Gly57Arg) variant details
- p.Gly57Arg
- gnomAD 20-50889861-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.139
- CADD 7.17
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available
- Literature evidence available