M12I (p.Met12Ile) variant of PON1 (Serum paraoxonase/arylesterase 1)
M12I (p.Met12Ile) in PON1 (Serum paraoxonase/arylesterase 1) is a missense change. Clinical records from ClinVar, EBI, 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 0.14 / 1. The record also includes population frequency data and structural context.
M12I (p.Met12Ile) variant details
- p.Met12Ile
- ExAC rs760138990
- TOPMed rs760138990
- gnomAD rs760138990
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.144
- REVEL 0.06
- CADD 8.71
- PolyPhen-2 0.00
- SIFT 0.52
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available