P32R (p.Pro32Arg) variant of LOX (Protein-lysine 6-oxidase)
P32R (p.Pro32Arg) 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 Aortic aneurysm, familial thoracic 10. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
P32R (p.Pro32Arg) variant details
- p.Pro32Arg
- rs780762236
- ClinGen CA360878451
- ClinVar RCV003756649
- 1000Genomes rs780762236
- Uncertain significance
- Aortic aneurysm, familial thoracic 10
- Missense
- Variant Prioritization Score for Impact Estimate 0.189
- REVEL 0.03
- CADD 19.40
- PolyPhen-2 0.00
- SIFT 0.08
- ClinVar: Uncertain significance (Aortic aneurysm, familial thoracic 10)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)