S83F (p.Ser83Phe) variant of LOX (Protein-lysine 6-oxidase)
S83F (p.Ser83Phe) 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 Cardiovascular phenotype; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
S83F (p.Ser83Phe) variant details
- p.Ser83Phe
- cosmic curated COSV50237
- gnomAD rs1341486354
- Uncertain significance
- Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.196
- REVEL 0.08
- CADD 21.10
- PolyPhen-2 0.01
- SIFT 0.08
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1e-05)
- Structural context available