Q65R (p.Gln65Arg) variant of LOX (Protein-lysine 6-oxidase)
Q65R (p.Gln65Arg) in LOX (Protein-lysine 6-oxidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
Q65R (p.Gln65Arg) variant details
- p.Gln65Arg
- rs2152591616
- ClinGen CA360877624
- ClinVar RCV001752382
- Ensembl rs2152591616
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.21
- REVEL 0.10
- CADD 21.80
- PolyPhen-2 0.70
- SIFT 0.95
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.4e-05)
- Structural context available