Q120E (p.Gln120Glu) variant of PROS1 (Vitamin K-dependent protein S)
Q120E (p.Gln120Glu) in PROS1 (Vitamin K-dependent protein S) is a missense change. Clinical records from ClinVar 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 0.72 / 1. The record also includes population frequency data.
Q120E (p.Gln120Glu) variant details
- p.Gln120Glu
- TOPMed rs1471724817
- gnomAD rs1471724817
- Uncertain significance
- Thrombophilia due to protein S deficiency, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.725
- REVEL 0.69
- CADD 25.40
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Uncertain significance (Thrombophilia due to protein S deficiency, autosomal recessive)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)