Q67L (p.Gln67Leu) variant of LOX (Protein-lysine 6-oxidase)
Q67L (p.Gln67Leu) in LOX (Protein-lysine 6-oxidase) 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 0.21 / 1. The record also includes population frequency data and structural context.
Q67L (p.Gln67Leu) variant details
- p.Gln67Leu
- rs1262315311
- ClinGen CA360877588
- ClinVar RCV002690309
- gnomAD rs1262315311
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- REVEL 0.03
- CADD 22.70
- PolyPhen-2 0.01
- SIFT 0.13
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available