G73D (p.Gly73Asp) variant of LOX (Protein-lysine 6-oxidase)
G73D (p.Gly73Asp) 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 not provided; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
G73D (p.Gly73Asp) variant details
- p.Gly73Asp
- rs766220173
- ClinGen CA3384098
- cosmic curated COSV50240
- ClinVar RCV002425546
- Likely benign
- not provided; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.05
- CADD 14.70
- PolyPhen-2 0.05
- SIFT 0.16
- ClinVar: Likely benign (not provided; Cardiovascular phenotype)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:UYGUR population (allele frequency 0.083)
- Structural context available