L57S (p.Leu57Ser) variant of CYP2C9 (Cytochrome P450 2C9)
L57S (p.Leu57Ser) in CYP2C9 (Cytochrome P450 2C9) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
L57S (p.Leu57Ser) variant details
- p.Leu57Ser
- gnomAD 10-94938849-AT-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.501
- CADD 19.10
- Population evidence available
- Structural context available
- Literature evidence available