P90R (p.Pro90Arg) variant of LOX (Protein-lysine 6-oxidase)
P90R (p.Pro90Arg) 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 0.25 / 1. The record also includes population frequency data and structural context.
P90R (p.Pro90Arg) variant details
- p.Pro90Arg
- rs749280415
- ClinGen CA360877202
- ClinVar RCV003841603
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.06
- CADD 21.30
- PolyPhen-2 0.00
- SIFT 0.09
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.6e-05)
- Structural context available