A6V (p.Ala6Val) variant of PON1 (Serum paraoxonase/arylesterase 1)
A6V (p.Ala6Val) in PON1 (Serum paraoxonase/arylesterase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.04 / 1. The record also includes population frequency data and structural context.
A6V (p.Ala6Val) variant details
- p.Ala6Val
- 1000Genomes rs150657027
- ESP rs150657027
- ExAC rs150657027
- TOPMed rs150657027
- Missense
- Variant Prioritization Score for Impact Estimate 0.0449
- REVEL 0.02
- CADD 0.03
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the 1KG:PEL population (allele frequency 0.0059)
- Structural context available