E49D (p.Glu49Asp) variant of PROC (Vitamin K-dependent protein C)
E49D (p.Glu49Asp) in PROC (Vitamin K-dependent protein C) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in patients with PROC deficiency. The record also includes published literature and structural context.
E49D (p.Glu49Asp) variant details
- p.Glu49Asp
- UniProt VAR 006640
- Uncertain significance
- in patients with PROC deficiency
- Missense
- EBI: Variant of uncertain significance (in patients with PROC deficiency)
- UniProt: Uncertain significance (in patients with PROC deficiency)
- Structural context available
- Cited in: Influence of six mutations of the protein C gene on the Gla domain conformation and calcium affinity. (PMID 7974343)