P90L (p.Pro90Leu) variant of LOX (Protein-lysine 6-oxidase)
P90L (p.Pro90Leu) 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 0.25 / 1. The record also includes population frequency data and structural context.
P90L (p.Pro90Leu) variant details
- p.Pro90Leu
- ExAC rs749280415
- TOPMed rs749280415
- gnomAD rs749280415
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.06
- CADD 22.00
- PolyPhen-2 0.00
- SIFT 0.05
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available