A88V (p.Ala88Val) variant of ADNP (Q9H2P0)
A88V (p.Ala88Val) in ADNP (Q9H2P0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
A88V (p.Ala88Val) variant details
- p.Ala88Val
- rs1980475361
- gnomAD 20-50889869-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- CADD 10.60
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available