N81D (p.Asn81Asp) variant of LOX (Protein-lysine 6-oxidase)
N81D (p.Asn81Asp) 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 0.04 / 1. The record also includes population frequency data and structural context.
N81D (p.Asn81Asp) variant details
- p.Asn81Asp
- rs1754683901
- ClinGen CA360877371
- ClinVar RCV001920111
- TOPMed rs1754683901
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0382
- REVEL 0.01
- CADD 1.90
- PolyPhen-2 0.01
- SIFT 0.67
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.4e-05)
- Structural context available