A84S (p.Ala84Ser) variant of LOX (Protein-lysine 6-oxidase)
A84S (p.Ala84Ser) 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 0.15 / 1. The record also includes population frequency data and structural context.
A84S (p.Ala84Ser) variant details
- p.Ala84Ser
- rs775808098
- ClinGen CA3384090
- ClinVar RCV003820422
- ExAC rs775808098
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.152
- REVEL 0.05
- CADD 14.90
- PolyPhen-2 0.00
- SIFT 0.51
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available