H134Q (p.His134Gln) variant of PON1 (Serum paraoxonase/arylesterase 1)
H134Q (p.His134Gln) in PON1 (Serum paraoxonase/arylesterase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
H134Q (p.His134Gln) variant details
- p.His134Gln
- ExAC rs774866534
- gnomAD rs774866534
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.52
- CADD 24.10
- PolyPhen-2 0.96
- SIFT 0.00
- Population evidence available
- Structural context available