L55M (p.Leu55Met) variant of PON1 (Serum paraoxonase/arylesterase 1)
L55M (p.Leu55Met) in PON1 (Serum paraoxonase/arylesterase 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
L55M (p.Leu55Met) variant details
- p.Leu55Met
- rs854560
- ClinGen CA123413
- ClinVar RCV000133465
- ClinVar RCV001682708
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.127
- REVEL 0.06
- CADD 21.10
- PolyPhen-2 0.03
- SIFT 0.00
- ClinVar: Benign (not provided)
- EBI: Benign (in dbSNP:rs854560)
- UniProt: Benign (in dbSNP:rs854560)
- Most common in the HGDP:BEDOUIN population (allele frequency 0.49)
- Structural context available
- Cited in: Effects of 5' regulatory-region polymorphisms on paraoxonase-gene (PON1) expression. (PMID 11335891)
- Cited in: LL-paraoxonase genotype is associated with a more severe degree of homeostasis model assessment IR in healthy subjects. (PMID 11788650)