A88G (p.Ala88Gly) variant of ADNP (Q9H2P0)
A88G (p.Ala88Gly) in ADNP (Q9H2P0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
A88G (p.Ala88Gly) variant details
- p.Ala88Gly
- gnomAD 20-50889869-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- CADD 10.10
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available
- Literature evidence available