D71E (p.Asp71Glu) variant of LOX (Protein-lysine 6-oxidase)
D71E (p.Asp71Glu) 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; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
D71E (p.Asp71Glu) variant details
- p.Asp71Glu
- rs747652187
- ClinGen CA3384103
- ClinVar RCV002430506
- ClinVar RCV005058739
- Uncertain significance
- not provided; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.08
- CADD 13.90
- PolyPhen-2 0.00
- SIFT 0.92
- ClinVar: Uncertain significance (not provided; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.5e-05)
- Structural context available