L76H (p.Leu76His) variant of VKORC1 (Q9BQB6)
L76H (p.Leu76His) in VKORC1 (Q9BQB6) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
L76H (p.Leu76His) variant details
- p.Leu76His
- rs1567421604
- gnomAD 16-31093429-A-AGG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.123
- CADD 5.98
- Population evidence available
- Structural context available
- Literature evidence available