W42C (p.Trp42Cys) variant of LOX (Protein-lysine 6-oxidase)
W42C (p.Trp42Cys) 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 0.42 / 1. The record also includes population frequency data and structural context.
W42C (p.Trp42Cys) variant details
- p.Trp42Cys
- rs1203264499
- ClinGen CA360878212
- ClinVar RCV003481768
- gnomAD rs1203264499
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- REVEL 0.21
- CADD 24.20
- PolyPhen-2 0.02
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available