Y24* (p.Tyr24Ter) variant of PON1 (Serum paraoxonase/arylesterase 1)
Y24* (p.Tyr24Ter) 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 0.42 / 1. The record also includes population frequency data and structural context.
Y24* (p.Tyr24Ter) variant details
- p.Tyr24Ter
- NCI-TCGA Cosmic COSV9973
- gnomAD rs1328564504
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.421
- CADD 36.00
- UniProt: Variant assessed as somatic; high impact.
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available