L24M (p.Leu24Met) variant of CYP4F2 (Cytochrome P450 4F2)
L24M (p.Leu24Met) in CYP4F2 (Cytochrome P450 4F2) 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 0.39 / 1. The record also includes population frequency data and structural context.
L24M (p.Leu24Met) variant details
- p.Leu24Met
- rs776637825
- ClinGen CA9274172
- ClinVar RCV004310063
- ExAC rs776637825
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.48
- CADD 16.90
- PolyPhen-2 0.91
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 7.3e-05)
- Structural context available