P77S (p.Pro77Ser) variant of LOX (Protein-lysine 6-oxidase)
P77S (p.Pro77Ser) in LOX (Protein-lysine 6-oxidase) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
P77S (p.Pro77Ser) variant details
- p.Pro77Ser
- cosmic curated COSV10507
- TOPMed rs1190393348
- gnomAD rs1190393348
- Likely benign
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.129
- REVEL 0.01
- CADD 1.21
- PolyPhen-2 0.00
- SIFT 0.83
- ClinVar: Likely benign (Cardiovascular phenotype)
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available