R27* (p.Arg27Ter) variant of PON1 (Serum paraoxonase/arylesterase 1)
R27* (p.Arg27Ter) 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 0.48 / 1. The record also includes population frequency data and structural context.
R27* (p.Arg27Ter) variant details
- p.Arg27Ter
- rs565598241
- NCI-TCGA Cosmic COSV5593
- 1000Genomes rs565598241
- TOPMed rs565598241
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.479
- CADD 36.00
- UniProt: Variant assessed as somatic; high impact.
- Most common in the 1KG:KHV population (allele frequency 0.005)
- Structural context available