L12Q (p.Leu12Gln) variant of PROS1 (Vitamin K-dependent protein S)
L12Q (p.Leu12Gln) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1.
L12Q (p.Leu12Gln) variant details
- p.Leu12Gln
- rs1347697005
- ClinGen CA353674302
- ClinVar RCV002044036
- TOPMed rs1347697005
- Uncertain significance
- Thrombophilia due to protein S deficiency, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.737
- AlphaMissense 0.23
- MetaLR 0.90
- MetaSVM 0.97
- PolyPhen-2 1.00
- SIFT 0.02
- MutPred 0.76
- ClinVar: Uncertain significance (Thrombophilia due to protein S deficiency, autosomal recessive)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance