T89S (p.Thr89Ser) variant of LOX (Protein-lysine 6-oxidase)
T89S (p.Thr89Ser) in LOX (Protein-lysine 6-oxidase) is a missense change. Clinical records from ClinVar 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 0.18 / 1. The record also includes population frequency data and structural context.
T89S (p.Thr89Ser) variant details
- p.Thr89Ser
- ExAC rs754399452
- TOPMed rs754399452
- gnomAD rs754399452
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.179
- REVEL 0.02
- CADD 17.90
- PolyPhen-2 0.00
- SIFT 0.88
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available