G54C (p.Gly54Cys) variant of APOH (Beta-2-glycoprotein 1)
G54C (p.Gly54Cys) in APOH (Beta-2-glycoprotein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
G54C (p.Gly54Cys) variant details
- p.Gly54Cys
- TOPMed rs2073450718
- gnomAD rs2073450718
- Missense
- Variant Prioritization Score for Impact Estimate 0.756
- REVEL 0.75
- CADD 24.70
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available