P80L (p.Pro80Leu) variant of ADNP (Q9H2P0)
P80L (p.Pro80Leu) 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.
P80L (p.Pro80Leu) variant details
- p.Pro80Leu
- cosmic curated COSV10466
- Missense
- Variant Prioritization Score for Impact Estimate 0.723
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.27
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available