P23L (p.Pro23Leu) variant of LOX (Protein-lysine 6-oxidase)
P23L (p.Pro23Leu) 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.
P23L (p.Pro23Leu) variant details
- p.Pro23Leu
- rs1754691769
- ClinGen CA360878670
- ClinVar RCV003854510
- TOPMed rs1754691769
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.05
- CADD 19.60
- PolyPhen-2 0.00
- SIFT 0.64
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available