L15H (p.Leu15His) variant of PROS1 (Vitamin K-dependent protein S)
L15H (p.Leu15His) in PROS1 (Vitamin K-dependent protein S) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in THPH5. The record also includes published literature.
L15H (p.Leu15His) variant details
- p.Leu15His
- UniProt VAR 046802
- Pathogenic
- in THPH5
- Missense
- EBI: Pathogenic (in THPH5)
- UniProt: Pathogenic (in THPH5)
- Cited in: Optimization of a simple and rapid single-strand conformation analysis for detection of mutations in the PROS1 gene… (PMID 10790208)
- Cited in: Functional characterization of twelve natural PROS1 mutations associated with anticoagulant protein S deficiency. (PMID 18322254)