P35Q (p.Pro35Gln) variant of LOX (Protein-lysine 6-oxidase)
P35Q (p.Pro35Gln) 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 0.14 / 1. The record also includes population frequency data and structural context.
P35Q (p.Pro35Gln) variant details
- p.Pro35Gln
- rs757946184
- ClinGen CA3384120
- ClinVar RCV001733478
- ClinVar RCV002388638
- Conflicting interpretations
- Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.136
- REVEL 0.07
- CADD 10.80
- PolyPhen-2 0.01
- SIFT 0.71
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.00027)
- Structural context available