S10* (p.Ser10Ter) variant of APOH (Beta-2-glycoprotein 1)
S10* (p.Ser10Ter) in APOH (Beta-2-glycoprotein 1) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
S10* (p.Ser10Ter) variant details
- p.Ser10Ter
- ESP rs147357246
- ExAC rs147357246
- TOPMed rs147357246
- gnomAD rs147357246
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.314
- CADD 33.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available