L89F (p.Leu89Phe) variant of PROS1 (Vitamin K-dependent protein S)
L89F (p.Leu89Phe) 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 0.70 / 1. The record also includes population frequency data.
L89F (p.Leu89Phe) variant details
- p.Leu89Phe
- rs1708748113
- ClinGen CA353674145
- ClinVar RCV003088766
- TOPMed rs1708748113
- Uncertain significance
- Thrombophilia due to protein S deficiency, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.696
- REVEL 0.72
- CADD 24.70
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (Thrombophilia due to protein S deficiency, autosomal recessive)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)