W130C (p.Trp130Cys) variant of APOH (Beta-2-glycoprotein 1)
W130C (p.Trp130Cys) in APOH (Beta-2-glycoprotein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
W130C (p.Trp130Cys) variant details
- p.Trp130Cys
- gnomAD rs1219058843
- Missense
- Variant Prioritization Score for Impact Estimate 0.754
- REVEL 0.73
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available