S76C (p.Ser76Cys) variant of PON1 (Serum paraoxonase/arylesterase 1)
S76C (p.Ser76Cys) in PON1 (Serum paraoxonase/arylesterase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
S76C (p.Ser76Cys) variant details
- p.Ser76Cys
- ExAC rs771456410
- gnomAD rs771456410
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.06
- CADD 14.30
- PolyPhen-2 0.03
- SIFT 0.04
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available