K119N (p.Lys119Asn) variant of ADNP (Q9H2P0)
K119N (p.Lys119Asn) in ADNP (Q9H2P0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
K119N (p.Lys119Asn) variant details
- p.Lys119Asn
- ExAC rs763316391
- gnomAD rs763316391
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- CADD 24.20
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available