F55L (p.Phe55Leu) variant of LOX (Protein-lysine 6-oxidase)
F55L (p.Phe55Leu) 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; not specified. 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.
F55L (p.Phe55Leu) variant details
- p.Phe55Leu
- TOPMed rs868464861
- Uncertain significance
- not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.10
- CADD 24.40
- PolyPhen-2 0.00
- SIFT 0.01
- ClinVar: Uncertain significance (not provided; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available