H53L (p.His53Leu) variant of CYP1A2 (Cytochrome P450 1A2)
H53L (p.His53Leu) in CYP1A2 (Cytochrome P450 1A2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
H53L (p.His53Leu) variant details
- p.His53Leu
- ExAC rs762906326
- TOPMed rs762906326
- gnomAD rs762906326
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- REVEL 0.41
- CADD 25.00
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available