C14* (p.Cys14Ter) variant of APOH (Beta-2-glycoprotein 1)
C14* (p.Cys14Ter) in APOH (Beta-2-glycoprotein 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
C14* (p.Cys14Ter) variant details
- p.Cys14Ter
- TOPMed rs1270775645
- gnomAD rs1270775645
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.443
- CADD 35.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available