P32Q (p.Pro32Gln) variant of LOX (Protein-lysine 6-oxidase)
P32Q (p.Pro32Gln) 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 not provided; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
P32Q (p.Pro32Gln) variant details
- p.Pro32Gln
- rs780762236
- ClinGen CA360878452
- ClinVar RCV001772448
- ClinVar RCV005660155
- Conflicting interpretations
- not provided; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.198
- REVEL 0.05
- CADD 19.20
- PolyPhen-2 0.01
- SIFT 0.09
- ClinVar: Conflicting classifications of pathogenicity (not provided; Cardiovascular phenotype)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 2.9e-05)
- Structural context available