L7H (p.Leu7His) variant of CYP2C9 (Cytochrome P450 2C9)
L7H (p.Leu7His) in CYP2C9 (Cytochrome P450 2C9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
L7H (p.Leu7His) variant details
- p.Leu7His
- ExAC rs753290446
- TOPMed rs753290446
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.35
- CADD 22.30
- PolyPhen-2 0.89
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-06)
- Structural context available