F72S (p.Phe72Ser) variant of PROS1 (Vitamin K-dependent protein S)
F72S (p.Phe72Ser) in PROS1 (Vitamin K-dependent protein S) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Protein S deficiency disease.
F72S (p.Phe72Ser) variant details
- p.Phe72Ser
- rs2471793821
- ClinGen CA353674445
- ClinVar RCV003594626
- Likely pathogenic
- Protein S deficiency disease
- Missense
- ClinVar: Likely pathogenic (Protein S deficiency disease)
- EBI: Likely pathogenic (in THPH5)
- UniProt: Likely pathogenic (in THPH5)