L9I (p.Leu9Ile) variant of ADNP (Q9H2P0)
L9I (p.Leu9Ile) 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, experimental measurements, and structural context.
L9I (p.Leu9Ile) variant details
- p.Leu9Ile
- gnomAD rs1470830305
- Missense
- Variant Prioritization Score for Impact Estimate 0.726
- CADD 23.30
- PolyPhen-2 0.17
- SIFT 0.04
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- ADNP Homeobox domain domainome 1.0: score -0.409