R57L (p.Arg57Leu) variant of CYP4F2 (Cytochrome P450 4F2)
R57L (p.Arg57Leu) 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 0.18 / 1. The record also includes population frequency data and structural context.
R57L (p.Arg57Leu) variant details
- p.Arg57Leu
- cosmic curated COSV10874
- TOPMed rs868834988
- gnomAD rs868834988
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.178
- REVEL 0.18
- CADD 2.74
- PolyPhen-2 0.09
- SIFT 0.06
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available