C79S (p.Cys79Ser) variant of APOH (Beta-2-glycoprotein 1)
C79S (p.Cys79Ser) in APOH (Beta-2-glycoprotein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
C79S (p.Cys79Ser) variant details
- p.Cys79Ser
- TOPMed rs1483624277
- gnomAD rs1483624277
- Missense
- Variant Prioritization Score for Impact Estimate 0.824
- REVEL 0.86
- CADD 25.10
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available