D71H (p.Asp71His) variant of LOX (Protein-lysine 6-oxidase)
D71H (p.Asp71His) 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 0.19 / 1. The record also includes population frequency data and structural context.
D71H (p.Asp71His) variant details
- p.Asp71His
- rs777539218
- ClinGen CA360877535
- ClinVar RCV001866538
- ClinVar RCV004641707
- Uncertain significance
- not provided; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.192
- REVEL 0.02
- CADD 20.40
- PolyPhen-2 0.11
- SIFT 0.18
- ClinVar: Uncertain significance (not provided; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available