E53A (p.Glu53Ala) variant of PON1 (Serum paraoxonase/arylesterase 1)
E53A (p.Glu53Ala) in PON1 (Serum paraoxonase/arylesterase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
E53A (p.Glu53Ala) variant details
- p.Glu53Ala
- gnomAD rs1472982874
- Missense
- Variant Prioritization Score for Impact Estimate 0.608
- REVEL 0.56
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available