P72T (p.Pro72Thr) variant of LOX (Protein-lysine 6-oxidase)
P72T (p.Pro72Thr) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
P72T (p.Pro72Thr) variant details
- p.Pro72Thr
- rs1754685342
- ClinGen CA360877524
- ClinVar RCV001935974
- TOPMed rs1754685342
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- REVEL 0.01
- CADD 16.50
- PolyPhen-2 0.01
- SIFT 0.08
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1e-05)
- Structural context available