L55V (p.Leu55Val) variant of PON1 (Serum paraoxonase/arylesterase 1)
L55V (p.Leu55Val) in PON1 (Serum paraoxonase/arylesterase 1) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
L55V (p.Leu55Val) variant details
- p.Leu55Val
- 1000Genomes rs854560
- ESP rs854560
- ExAC rs854560
- TOPMed rs854560
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.124
- REVEL 0.09
- CADD 16.40
- PolyPhen-2 0.00
- SIFT 0.07
- EBI: Benign (in dbSNP:rs854560)
- UniProt: Benign (in dbSNP:rs854560)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available