N50K (p.Asn50Lys) variant of LOX (Protein-lysine 6-oxidase)
N50K (p.Asn50Lys) 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 Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
N50K (p.Asn50Lys) variant details
- p.Asn50Lys
- rs1303506475
- ClinGen CA360877949
- ClinVar RCV001773835
- gnomAD rs1303506475
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.09
- CADD 24.10
- PolyPhen-2 0.12
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available