E148K (p.Glu148Lys) variant of PON1 (Serum paraoxonase/arylesterase 1)
E148K (p.Glu148Lys) in PON1 (Serum paraoxonase/arylesterase 1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
E148K (p.Glu148Lys) variant details
- p.Glu148Lys
- ExAC rs775970921
- TOPMed rs775970921
- gnomAD rs775970921
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.194
- REVEL 0.10
- CADD 23.10
- PolyPhen-2 0.01
- SIFT 0.05
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available