P43L (p.Pro43Leu) variant of CYP1A2 (Cytochrome P450 1A2)
P43L (p.Pro43Leu) in CYP1A2 (Cytochrome P450 1A2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
P43L (p.Pro43Leu) variant details
- p.Pro43Leu
- gnomAD 15-74749866-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.826
- REVEL 0.89
- CADD 24.40
- PolyPhen-2 1.00
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available