L80L (p.Leu80Leu) variant of PROC (Vitamin K-dependent protein C)
L80L (p.Leu80Leu) in PROC (Vitamin K-dependent protein C) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
L80L (p.Leu80Leu) variant details
- p.Leu80Leu
- rs1433950308
- gnomAD 2-127422917-C-T
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.45
- CADD 19.40
- Population evidence available
- Structural context available
- Literature evidence available