P72L (p.Pro72Leu) variant of LOX (Protein-lysine 6-oxidase)
P72L (p.Pro72Leu) 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 LOX-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
P72L (p.Pro72Leu) variant details
- p.Pro72Leu
- rs754947607
- ClinGen CA3384101
- ClinVar RCV004528709
- ExAC rs754947607
- Uncertain significance
- LOX-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- REVEL 0.05
- CADD 23.10
- PolyPhen-2 0.00
- SIFT 0.04
- ClinVar: Uncertain significance (LOX-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available