L48H (p.Leu48His) variant of CYP4F2 (Cytochrome P450 4F2)
L48H (p.Leu48His) in CYP4F2 (Cytochrome P450 4F2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
L48H (p.Leu48His) variant details
- p.Leu48His
- rs763421194
- gnomAD 19-15879378-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- CADD 6.65
- SIFT 0.16
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available