N19D (p.Asn19Asp) variant of PON1 (Serum paraoxonase/arylesterase 1)
N19D (p.Asn19Asp) in PON1 (Serum paraoxonase/arylesterase 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
N19D (p.Asn19Asp) variant details
- p.Asn19Asp
- rs141948033
- ClinGen CA4350439
- ClinVar RCV003433941
- 1000Genomes rs141948033
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.143
- REVEL 0.05
- CADD 13.10
- PolyPhen-2 0.00
- SIFT 0.46
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:IBS population (allele frequency 0.0096)
- Structural context available