E49K (p.Glu49Lys) variant of PON1 (Serum paraoxonase/arylesterase 1)
E49K (p.Glu49Lys) in PON1 (Serum paraoxonase/arylesterase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
E49K (p.Glu49Lys) variant details
- p.Glu49Lys
- ESP rs149100710
- ExAC rs149100710
- TOPMed rs149100710
- gnomAD rs149100710
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.14
- CADD 35.00
- PolyPhen-2 0.73
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 6e-05)
- Structural context available