P55L (p.Pro55Leu) variant of CYP4F2 (Cytochrome P450 4F2)
P55L (p.Pro55Leu) in CYP4F2 (Cytochrome P450 4F2) 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.
P55L (p.Pro55Leu) variant details
- p.Pro55Leu
- TOPMed rs1444158492
- gnomAD rs1444158492
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.40
- CADD 22.50
- PolyPhen-2 0.16
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available