A15V (p.Ala15Val) variant of ADNP (Q9H2P0)
A15V (p.Ala15Val) in ADNP (Q9H2P0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A15V (p.Ala15Val) variant details
- p.Ala15Val
- gnomAD rs1175242224
- Missense
- Variant Prioritization Score for Impact Estimate 0.766
- CADD 24.70
- PolyPhen-2 0.99
- SIFT 0.24
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- ADNP Homeobox domain domainome 1.0: score -0.395