A88S (p.Ala88Ser) variant of ADNP (Q9H2P0)
A88S (p.Ala88Ser) in ADNP (Q9H2P0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
A88S (p.Ala88Ser) variant details
- p.Ala88Ser
- gnomAD 20-50889870-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- CADD 14.30
- Population evidence available
- Structural context available
- Literature evidence available