C16S (p.Cys16Ser) variant of LOX (Protein-lysine 6-oxidase)
C16S (p.Cys16Ser) in LOX (Protein-lysine 6-oxidase) is a missense change. Clinical records from ClinVar 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 0.30 / 1. The record also includes population frequency data and structural context.
C16S (p.Cys16Ser) variant details
- p.Cys16Ser
- ExAC rs762984867
- TOPMed rs762984867
- gnomAD rs762984867
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.19
- CADD 23.20
- PolyPhen-2 0.04
- SIFT 0.04
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.7e-06)
- Structural context available