E67K (p.Glu67Lys) variant of PROS1 (Vitamin K-dependent protein S)
E67K (p.Glu67Lys) 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 not provided.
E67K (p.Glu67Lys) variant details
- p.Glu67Lys
- rs2471793830
- ClinGen CA353674482
- ClinVar RCV003480116
- Likely pathogenic
- not provided
- Missense
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic (in THPH5)
- UniProt: Likely pathogenic (in THPH5)