M92L (p.Met92Leu) variant of CYP4F2 (Cytochrome P450 4F2)
M92L (p.Met92Leu) in CYP4F2 (Cytochrome P450 4F2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. 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.
M92L (p.Met92Leu) variant details
- p.Met92Leu
- ExAC rs745455806
- TOPMed rs745455806
- gnomAD rs745455806
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.144
- REVEL 0.19
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available