E123K (p.Glu123Lys) variant of PON1 (Serum paraoxonase/arylesterase 1)
E123K (p.Glu123Lys) in PON1 (Serum paraoxonase/arylesterase 1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
E123K (p.Glu123Lys) variant details
- p.Glu123Lys
- NCI-TCGA Cosmic COSV5593
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.04
- CADD 16.10
- PolyPhen-2 0.00
- SIFT 0.94
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available