L100F (p.Leu100Phe) variant of PON1 (Serum paraoxonase/arylesterase 1)
L100F (p.Leu100Phe) in PON1 (Serum paraoxonase/arylesterase 1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
L100F (p.Leu100Phe) variant details
- p.Leu100Phe
- 1000Genomes rs532844853
- ExAC rs532844853
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.30
- CADD 22.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the 1KG:STU population (allele frequency 0.0051)
- Structural context available