C110R (p.Cys110Arg) variant of APOH (Beta-2-glycoprotein 1)
C110R (p.Cys110Arg) in APOH (Beta-2-glycoprotein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
C110R (p.Cys110Arg) variant details
- p.Cys110Arg
- 1000Genomes rs558145665
- ExAC rs558145665
- gnomAD rs558145665
- Missense
- Variant Prioritization Score for Impact Estimate 0.774
- REVEL 0.87
- CADD 27.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available