R88H (p.Arg88His) variant of LOX (Protein-lysine 6-oxidase)
R88H (p.Arg88His) in LOX (Protein-lysine 6-oxidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
R88H (p.Arg88His) variant details
- p.Arg88His
- rs369178929
- ClinGen CA3384084
- cosmic curated COSV99140
- ClinVar RCV001760468
- Conflicting interpretations
- not provided; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.06
- CADD 24.20
- PolyPhen-2 0.38
- SIFT 0.04
- ClinVar: Conflicting classifications of pathogenicity (not provided; Cardiovascular phenotype)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 9.8e-05)
- Structural context available