E38* (p.Glu38Ter) variant of PON1 (Serum paraoxonase/arylesterase 1)
E38* (p.Glu38Ter) in PON1 (Serum paraoxonase/arylesterase 1) is a protein-truncating change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
E38* (p.Glu38Ter) variant details
- p.Glu38Ter
- rs769580289
- NCI-TCGA Cosmic COSV5593
- TOPMed rs769580289
- gnomAD rs769580289
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.502
- CADD 35.00
- UniProt: Variant assessed as somatic; high impact.
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available