L89P (p.Leu89Pro) variant of PROS1 (Vitamin K-dependent protein S)
L89P (p.Leu89Pro) 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 0.89 / 1.
L89P (p.Leu89Pro) variant details
- p.Leu89Pro
- rs1708748069
- ClinGen CA353674143
- ClinVar RCV003821468
- Ensembl rs1708748069
- Uncertain significance
- Thrombophilia due to protein S deficiency, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.887
- AlphaMissense 0.91
- MetaLR 0.99
- MetaSVM 1.01
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.65
- ClinVar: Uncertain significance (Thrombophilia due to protein S deficiency, autosomal recessive)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance