P12R (p.Pro12Arg) variant of LOX (Protein-lysine 6-oxidase)
P12R (p.Pro12Arg) in LOX (Protein-lysine 6-oxidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
P12R (p.Pro12Arg) variant details
- p.Pro12Arg
- 1000Genomes rs561937884
- ExAC rs561937884
- gnomAD rs561937884
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- REVEL 0.11
- CADD 19.40
- PolyPhen-2 0.00
- SIFT 0.57
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available