G61D (p.Gly61Asp) variant of LOX (Protein-lysine 6-oxidase)
G61D (p.Gly61Asp) 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 0.53 / 1. The record also includes population frequency data and structural context.
G61D (p.Gly61Asp) variant details
- p.Gly61Asp
- rs1260167996
- ClinGen CA360877693
- ClinVar RCV003710942
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.533
- REVEL 0.37
- CADD 26.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available