L12P (p.Leu12Pro) variant of PROS1 (Vitamin K-dependent protein S)
L12P (p.Leu12Pro) in PROS1 (Vitamin K-dependent protein S) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Thrombophilia due to protein S deficiency, autosomal recessive.
L12P (p.Leu12Pro) variant details
- p.Leu12Pro
- TOPMed rs1347697005
- Uncertain significance
- Thrombophilia due to protein S deficiency, autosomal recessive
- Missense
- ClinVar: Uncertain significance (Thrombophilia due to protein S deficiency, autosomal recessive)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance