C21* (p.Cys21Ter) variant of LOX (Protein-lysine 6-oxidase)
C21* (p.Cys21Ter) in LOX (Protein-lysine 6-oxidase) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
C21* (p.Cys21Ter) variant details
- p.Cys21Ter
- rs771172229
- ClinGen CA360878693
- ClinVar RCV003015874
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.592
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available