H134D (p.His134Asp) variant of PON1 (Serum paraoxonase/arylesterase 1)
H134D (p.His134Asp) in PON1 (Serum paraoxonase/arylesterase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
H134D (p.His134Asp) variant details
- p.His134Asp
- gnomAD rs1563597857
- Missense
- Variant Prioritization Score for Impact Estimate 0.699
- REVEL 0.64
- CADD 26.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available