A116V (p.Ala116Val) variant of ADNP (Q9H2P0)
A116V (p.Ala116Val) in ADNP (Q9H2P0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
A116V (p.Ala116Val) variant details
- p.Ala116Val
- ExAC rs774846069
- TOPMed rs774846069
- gnomAD rs774846069
- Missense
- Variant Prioritization Score for Impact Estimate 0.735
- CADD 23.80
- PolyPhen-2 0.19
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available