G11A (p.Gly11Ala) variant of LOX (Protein-lysine 6-oxidase)
G11A (p.Gly11Ala) 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 0.34 / 1. The record also includes population frequency data and structural context.
G11A (p.Gly11Ala) variant details
- p.Gly11Ala
- rs750073669
- ClinGen CA3384142
- ClinVar RCV003693667
- ExAC rs750073669
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.07
- CADD 20.90
- PolyPhen-2 0.00
- SIFT 0.53
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available