D71N (p.Asp71Asn) variant of LOX (Protein-lysine 6-oxidase)
D71N (p.Asp71Asn) 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 Cardiovascular phenotype; Aortic aneurysm, familial thoracic 10. 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.
D71N (p.Asp71Asn) variant details
- p.Asp71Asn
- ExAC rs777539218
- TOPMed rs777539218
- gnomAD rs777539218
- Uncertain significance
- Cardiovascular phenotype; Aortic aneurysm, familial thoracic 10
- Missense
- Variant Prioritization Score for Impact Estimate 0.207
- REVEL 0.05
- CADD 19.10
- PolyPhen-2 0.04
- SIFT 0.51
- ClinVar: Uncertain significance (Cardiovascular phenotype; Aortic aneurysm, familial thoracic 10)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available