L55M (p.Leu55Met) variant of PROC (Vitamin K-dependent protein C)
L55M (p.Leu55Met) in PROC (Vitamin K-dependent protein C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
L55M (p.Leu55Met) variant details
- p.Leu55Met
- gnomAD 2-127421375-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.533
- REVEL 0.63
- CADD 17.30
- PolyPhen-2 0.87
- SIFT 0.21
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available