P12S (p.Pro12Ser) variant of LOX (Protein-lysine 6-oxidase)
P12S (p.Pro12Ser) in LOX (Protein-lysine 6-oxidase) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
P12S (p.Pro12Ser) variant details
- p.Pro12Ser
- 1000Genomes rs529787826
- ExAC rs529787826
- gnomAD rs529787826
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.05
- CADD 19.10
- PolyPhen-2 0.00
- SIFT 0.68
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Most common in the 1KG:STU population (allele frequency 0.0051)
- Structural context available