L330P (p.Leu330Pro) variant of PROC (Vitamin K-dependent protein C)
L330P (p.Leu330Pro) in PROC (Vitamin K-dependent protein C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Thrombophilia due to protein C deficiency, autosomal dominant. The record also includes structural context.
L330P (p.Leu330Pro) variant details
- p.Leu330Pro
- rs2468377531
- ClinGen CA348405270
- ClinVar RCV003484567
- Likely pathogenic
- Thrombophilia due to protein C deficiency, autosomal dominant
- Missense
- ClinVar: Likely pathogenic (Thrombophilia due to protein C deficiency, autosomal dominant)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available