C124R (p.Cys124Arg) variant of APOH (Beta-2-glycoprotein 1)
C124R (p.Cys124Arg) in APOH (Beta-2-glycoprotein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
C124R (p.Cys124Arg) variant details
- p.Cys124Arg
- ExAC rs552047225
- TOPMed rs552047225
- Missense
- Variant Prioritization Score for Impact Estimate 0.743
- REVEL 0.83
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available