E56A (p.Glu56Ala) variant of PROC (Vitamin K-dependent protein C)
E56A (p.Glu56Ala) in PROC (Vitamin K-dependent protein C) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
E56A (p.Glu56Ala) variant details
- p.Glu56Ala
- gnomAD 2-127421376-TGG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.643
- CADD 27.50
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available