A78V (p.Ala78Val) variant of ADNP (Q9H2P0)
A78V (p.Ala78Val) in ADNP (Q9H2P0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
A78V (p.Ala78Val) variant details
- p.Ala78Val
- ExAC rs769438690
- gnomAD rs769438690
- Missense
- Variant Prioritization Score for Impact Estimate 0.721
- CADD 22.40
- PolyPhen-2 0.11
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available