L7P (p.Leu7Pro) variant of PROC (Vitamin K-dependent protein C)
L7P (p.Leu7Pro) 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.
L7P (p.Leu7Pro) variant details
- p.Leu7Pro
- rs2468318825
- ClinGen CA348397343
- ClinVar RCV003496651
- 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