P87L (p.Pro87Leu) variant of LOX (Protein-lysine 6-oxidase)
P87L (p.Pro87Leu) in LOX (Protein-lysine 6-oxidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
P87L (p.Pro87Leu) variant details
- p.Pro87Leu
- rs572413728
- ClinGen CA3384087
- ClinVar RCV001956793
- ClinVar RCV003303515
- Conflicting interpretations
- Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.133
- REVEL 0.03
- CADD 16.10
- PolyPhen-2 0.00
- SIFT 0.20
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:PEL population (allele frequency 0.0059)
- Structural context available