C84R (p.Cys84Arg) variant of APOH (Beta-2-glycoprotein 1)
C84R (p.Cys84Arg) in APOH (Beta-2-glycoprotein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
C84R (p.Cys84Arg) variant details
- p.Cys84Arg
- TOPMed rs1430551583
- Missense
- Variant Prioritization Score for Impact Estimate 0.79
- REVEL 0.88
- CADD 29.20
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available