P32L (p.Pro32Leu) variant of LOX (Protein-lysine 6-oxidase)
P32L (p.Pro32Leu) in LOX (Protein-lysine 6-oxidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not specified; not provided; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
P32L (p.Pro32Leu) variant details
- p.Pro32Leu
- rs780762236
- ClinGen CA3384124
- cosmic curated COSV50238
- ClinVar RCV002226163
- Likely benign
- not specified; not provided; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.07
- CADD 22.70
- PolyPhen-2 0.04
- SIFT 0.01
- ClinVar: Likely benign (not specified; not provided; Cardiovascular phenotype)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:CHB population (allele frequency 0.0049)
- Structural context available