P72L (p.Pro72Leu) variant of PON1 (Serum paraoxonase/arylesterase 1)
P72L (p.Pro72Leu) in PON1 (Serum paraoxonase/arylesterase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
P72L (p.Pro72Leu) variant details
- p.Pro72Leu
- TOPMed rs1807747576
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- REVEL 0.40
- CADD 27.30
- PolyPhen-2 0.98
- SIFT 0.03
- Population evidence available
- Structural context available