P79A (p.Pro79Ala) variant of PON1 (Serum paraoxonase/arylesterase 1)
P79A (p.Pro79Ala) in PON1 (Serum paraoxonase/arylesterase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
P79A (p.Pro79Ala) variant details
- p.Pro79Ala
- ExAC rs756493526
- gnomAD rs756493526
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.19
- CADD 15.20
- PolyPhen-2 0.01
- SIFT 0.02
- Most common in the South Asian population (allele frequency 0.00016)
- Structural context available