L31F (p.Leu31Phe) variant of PON1 (Serum paraoxonase/arylesterase 1)
L31F (p.Leu31Phe) in PON1 (Serum paraoxonase/arylesterase 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
L31F (p.Leu31Phe) variant details
- p.Leu31Phe
- ExAC rs754456047
- TOPMed rs754456047
- gnomAD rs754456047
- Likely benign
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.16
- REVEL 0.08
- CADD 4.87
- PolyPhen-2 0.00
- SIFT 0.80
- ClinVar: Likely benign (not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available