G27A (p.Gly27Ala) variant of LOX (Protein-lysine 6-oxidase)
G27A (p.Gly27Ala) in LOX (Protein-lysine 6-oxidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
G27A (p.Gly27Ala) variant details
- p.Gly27Ala
- ESP rs374368100
- gnomAD rs374368100
- Likely benign
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.209
- REVEL 0.07
- CADD 19.60
- PolyPhen-2 0.00
- SIFT 0.25
- ClinVar: Likely benign (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:NAXI population (allele frequency 0.071)
- Structural context available