S52F (p.Ser52Phe) variant of PON1 (Serum paraoxonase/arylesterase 1)
S52F (p.Ser52Phe) in PON1 (Serum paraoxonase/arylesterase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
S52F (p.Ser52Phe) variant details
- p.Ser52Phe
- gnomAD rs1161525871
- Missense
- Variant Prioritization Score for Impact Estimate 0.559
- REVEL 0.38
- CADD 29.80
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available