Q67E (p.Gln67Glu) variant of LOX (Protein-lysine 6-oxidase)
Q67E (p.Gln67Glu) in LOX (Protein-lysine 6-oxidase) is a missense change. Clinical records from ClinVar 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 0.30 / 1. The record also includes population frequency data and structural context.
Q67E (p.Gln67Glu) variant details
- p.Gln67Glu
- gnomAD rs1459778601
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.03
- CADD 21.00
- PolyPhen-2 0.01
- SIFT 0.15
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 5.2e-05)
- Structural context available