P35R (p.Pro35Arg) variant of LOX (Protein-lysine 6-oxidase)
P35R (p.Pro35Arg) in LOX (Protein-lysine 6-oxidase) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. 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.
P35R (p.Pro35Arg) variant details
- p.Pro35Arg
- ExAC rs757946184
- TOPMed rs757946184
- gnomAD rs757946184
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.134
- REVEL 0.06
- CADD 12.30
- PolyPhen-2 0.01
- SIFT 0.57
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)
- Structural context available