E123V (p.Glu123Val) variant of PON1 (Serum paraoxonase/arylesterase 1)
E123V (p.Glu123Val) in PON1 (Serum paraoxonase/arylesterase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
E123V (p.Glu123Val) variant details
- p.Glu123Val
- 1000Genomes rs189946844
- ExAC rs189946844
- gnomAD rs189946844
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.10
- CADD 33.00
- PolyPhen-2 0.01
- SIFT 0.02
- Most common in the 1KG:YRI population (allele frequency 0.0086)
- Structural context available