A88A (p.Ala88Ala) variant of ADNP (Q9H2P0)
A88A (p.Ala88Ala) in ADNP (Q9H2P0) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
A88A (p.Ala88Ala) variant details
- p.Ala88Ala
- rs1208326177
- gnomAD 20-50889868-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.232
- CADD 10.70
- Most common in the East Asian population (allele frequency 0.00039)
- Structural context available
- Literature evidence available