D124N (p.Asp124Asn) variant of PON1 (Serum paraoxonase/arylesterase 1)
D124N (p.Asp124Asn) in PON1 (Serum paraoxonase/arylesterase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
D124N (p.Asp124Asn) variant details
- p.Asp124Asn
- ExAC rs756094547
- TOPMed rs756094547
- gnomAD rs756094547
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.16
- CADD 33.00
- PolyPhen-2 0.02
- SIFT 0.03
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available