E56E (p.Glu56Glu) variant of PROC (Vitamin K-dependent protein C)
E56E (p.Glu56Glu) in PROC (Vitamin K-dependent protein C) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
E56E (p.Glu56Glu) variant details
- p.Glu56Glu
- rs1558712080
- gnomAD 2-127421380-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.212
- CADD 5.02
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available
- Literature evidence available