L36R (p.Leu36Arg) variant of CYP2C9 (Cytochrome P450 2C9)
L36R (p.Leu36Arg) in CYP2C9 (Cytochrome P450 2C9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
L36R (p.Leu36Arg) variant details
- p.Leu36Arg
- ExAC rs761289446
- gnomAD rs761289446
- Missense
- Variant Prioritization Score for Impact Estimate 0.547
- REVEL 0.57
- CADD 23.40
- PolyPhen-2 0.94
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available