P35L (p.Pro35Leu) variant of LOX (Protein-lysine 6-oxidase)
P35L (p.Pro35Leu) 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 0.15 / 1. The record also includes population frequency data and structural context.
P35L (p.Pro35Leu) variant details
- p.Pro35Leu
- rs757946184
- ClinGen CA125917631
- ClinVar RCV001770685
- ExAC rs757946184
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.147
- REVEL 0.08
- CADD 14.70
- PolyPhen-2 0.07
- SIFT 0.32
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.2e-05)
- Structural context available