G57V (p.Gly57Val) variant of ADNP (Q9H2P0)
G57V (p.Gly57Val) in ADNP (Q9H2P0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
G57V (p.Gly57Val) variant details
- p.Gly57Val
- rs150159497
- gnomAD 20-50889923-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- CADD 7.96
- Population evidence available
- Structural context available
- Literature evidence available