L55P (p.Leu55Pro) variant of PROC (Vitamin K-dependent protein C)
L55P (p.Leu55Pro) 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 structural context.
L55P (p.Leu55Pro) variant details
- p.Leu55Pro
- rs2468325276
- ClinGen CA348397935
- ClinVar RCV002663929
- Uncertain significance
- Thrombophilia due to protein C deficiency, autosomal dominant
- Missense
- ClinVar: Uncertain significance (Thrombophilia due to protein C deficiency, autosomal dominant)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available