A63V (p.Ala63Val) variant of PON1 (Serum paraoxonase/arylesterase 1)
A63V (p.Ala63Val) in PON1 (Serum paraoxonase/arylesterase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
A63V (p.Ala63Val) variant details
- p.Ala63Val
- gnomAD rs1343252260
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- REVEL 0.13
- CADD 23.00
- PolyPhen-2 0.14
- SIFT 0.05
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available