G27V (p.Gly27Val) variant of LOX (Protein-lysine 6-oxidase)
G27V (p.Gly27Val) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
G27V (p.Gly27Val) variant details
- p.Gly27Val
- rs374368100
- ClinGen CA125917651
- ClinVar RCV003862699
- ClinVar RCV004992918
- Uncertain significance
- Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.205
- REVEL 0.05
- CADD 20.90
- PolyPhen-2 0.03
- SIFT 0.15
- ClinVar: Uncertain significance (Cardiovascular phenotype; 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