V18E (p.Val18Glu) variant of PROS1 (Vitamin K-dependent protein S)
V18E (p.Val18Glu) 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.
V18E (p.Val18Glu) variant details
- p.Val18Glu
- UniProt VAR 046803
- Pathogenic
- in THPH5
- Missense
- EBI: Pathogenic (in THPH5)
- UniProt: Pathogenic (in THPH5)
- Cited in: Genetic and phenotypic variability between families with hereditary protein S deficiency. (PMID 11858485)
- Cited in: Protein S gene analysis reveals the presence of a cosegregating mutation in most pedigrees with type I but not type III… (PMID 10447256)