L57M (p.Leu57Met) variant of CYP1A2 (Cytochrome P450 1A2)
L57M (p.Leu57Met) 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, published literature, and structural context.
L57M (p.Leu57Met) variant details
- p.Leu57Met
- gnomAD 15-74749907-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- REVEL 0.45
- CADD 19.90
- PolyPhen-2 0.99
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available