P72R (p.Pro72Arg) variant of LOX (Protein-lysine 6-oxidase)
P72R (p.Pro72Arg) 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 Cardiovascular phenotype; not specified; not provided. 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.
P72R (p.Pro72Arg) variant details
- p.Pro72Arg
- rs754947607
- ClinGen CA3384100
- ClinVar RCV001965997
- ClinVar RCV003382752
- Uncertain significance
- Cardiovascular phenotype; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- REVEL 0.07
- CADD 20.10
- PolyPhen-2 0.06
- SIFT 0.37
- ClinVar: Uncertain significance (Cardiovascular phenotype; not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available