K119E (p.Lys119Glu) variant of ADNP (Q9H2P0)
K119E (p.Lys119Glu) in ADNP (Q9H2P0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
K119E (p.Lys119Glu) variant details
- p.Lys119Glu
- rs2122764432
- ClinGen CA408978331
- ClinVar RCV003332815
- Ensembl rs2122764432
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.675
- CADD 27.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available