P87T (p.Pro87Thr) variant of LOX (Protein-lysine 6-oxidase)
P87T (p.Pro87Thr) 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 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.
P87T (p.Pro87Thr) variant details
- p.Pro87Thr
- ExAC rs746215345
- TOPMed rs746215345
- gnomAD rs746215345
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- REVEL 0.02
- CADD 16.40
- PolyPhen-2 0.03
- SIFT 0.18
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available