G78A (p.Gly78Ala) variant of LOX (Protein-lysine 6-oxidase)
G78A (p.Gly78Ala) in LOX (Protein-lysine 6-oxidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
G78A (p.Gly78Ala) variant details
- p.Gly78Ala
- rs774406736
- ClinGen CA3384093
- ClinVar RCV003306569
- ClinVar RCV005061240
- Conflicting interpretations
- Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.118
- REVEL 0.04
- CADD 2.03
- PolyPhen-2 0.00
- SIFT 0.68
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available