A30D (p.Ala30Asp) variant of PON1 (Serum paraoxonase/arylesterase 1)
A30D (p.Ala30Asp) in PON1 (Serum paraoxonase/arylesterase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
A30D (p.Ala30Asp) variant details
- p.Ala30Asp
- ExAC rs780715270
- gnomAD rs780715270
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.22
- CADD 23.10
- PolyPhen-2 0.71
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available