G40D (p.Gly40Asp) variant of LOX (Protein-lysine 6-oxidase)
G40D (p.Gly40Asp) in LOX (Protein-lysine 6-oxidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
G40D (p.Gly40Asp) variant details
- p.Gly40Asp
- gnomAD rs1451725256
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- REVEL 0.09
- CADD 18.80
- PolyPhen-2 0.03
- SIFT 0.06
- Most common in the South Asian population (allele frequency 2.6e-05)
- Structural context available