L48R (p.Leu48Arg) variant of CYP4F2 (Cytochrome P450 4F2)
L48R (p.Leu48Arg) in CYP4F2 (Cytochrome P450 4F2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
L48R (p.Leu48Arg) variant details
- p.Leu48Arg
- rs763421194
- gnomAD 19-15879378-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- CADD 6.79
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available