W14G (p.Trp14Gly) variant of PROC (Vitamin K-dependent protein C)
W14G (p.Trp14Gly) 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.
W14G (p.Trp14Gly) variant details
- p.Trp14Gly
- UniProt VAR 006634
- 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: Twelve novel and two recurrent mutations in 14 Austrian families with hereditary protein C deficiency. (PMID 8499565)