Q30R (p.Gln30Arg) variant of LOX (Protein-lysine 6-oxidase)
Q30R (p.Gln30Arg) in LOX (Protein-lysine 6-oxidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
Q30R (p.Gln30Arg) variant details
- p.Gln30Arg
- gnomAD rs1236584777
- Missense
- Variant Prioritization Score for Impact Estimate 0.166
- REVEL 0.03
- CADD 18.80
- PolyPhen-2 0.00
- SIFT 0.35
- Most common in the South Asian population (allele frequency 4.1e-05)
- Structural context available