Q29P (p.Gln29Pro) variant of LOX (Protein-lysine 6-oxidase)
Q29P (p.Gln29Pro) in LOX (Protein-lysine 6-oxidase) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
Q29P (p.Gln29Pro) variant details
- p.Gln29Pro
- 1000Genomes rs768939667
- ExAC rs768939667
- TOPMed rs768939667
- gnomAD rs768939667
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.148
- REVEL 0.09
- CADD 21.40
- PolyPhen-2 0.06
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.6e-05)
- Structural context available