K70E (p.Lys70Glu) variant of PROC (Vitamin K-dependent protein C)
K70E (p.Lys70Glu) in PROC (Vitamin K-dependent protein C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Thrombophilia due to protein C deficiency, autosomal dominant. The record also includes published literature and structural context.
K70E (p.Lys70Glu) variant details
- p.Lys70Glu
- rs199469481
- ClinGen CA55343075
- ClinVar RCV003494637
- UniProt VAR 074296
- Uncertain significance
- Thrombophilia due to protein C deficiency, autosomal dominant
- Missense
- ClinVar: Uncertain significance (Thrombophilia due to protein C deficiency, autosomal dominant)
- EBI: Benign (in patients with PROC deficiency)
- UniProt: Benign (in patients with PROC deficiency)
- Structural context available
- Cited in: Genetic background analysis of protein C deficiency demonstrates a recurrent mutation associated with venous thrombosis… (PMID 22545135)