P87S (p.Pro87Ser) variant of LOX (Protein-lysine 6-oxidase)
P87S (p.Pro87Ser) 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 not provided; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
P87S (p.Pro87Ser) variant details
- p.Pro87Ser
- rs746215345
- ClinGen CA3384088
- ClinVar RCV003665105
- ClinVar RCV005363164
- Uncertain significance
- not provided; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.21
- REVEL 0.02
- CADD 15.90
- PolyPhen-2 0.00
- SIFT 0.40
- ClinVar: Uncertain significance (not provided; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.5e-05)
- Structural context available