E48Q (p.Glu48Gln) variant of PROC (Vitamin K-dependent protein C)
E48Q (p.Glu48Gln) in PROC (Vitamin K-dependent protein C) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The record also includes structural context.
E48Q (p.Glu48Gln) variant details
- p.Glu48Gln
- NCI-TCGA Cosmic COSV5216
- cosmic curated COSV52168
- Uncertain significance
- Inborn genetic diseases
- Missense
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Structural context available