A25T (p.Ala25Thr) variant of LOX (Protein-lysine 6-oxidase)
A25T (p.Ala25Thr) 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 specified; Cardiovascular phenotype; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
A25T (p.Ala25Thr) variant details
- p.Ala25Thr
- rs772082708
- ClinGen CA3384129
- ClinVar RCV002623923
- ClinVar RCV003331442
- Conflicting interpretations
- not specified; Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.229
- REVEL 0.01
- CADD 15.80
- PolyPhen-2 0.00
- SIFT 0.47
- ClinVar: Conflicting classifications of pathogenicity (not specified; Cardiovascular phenotype; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 0.00026)
- Structural context available