E47* (p.Glu47Ter) variant of PROS1 (Vitamin K-dependent protein S)
E47* (p.Glu47Ter) in PROS1 (Vitamin K-dependent protein S) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1.
E47* (p.Glu47Ter) variant details
- p.Glu47Ter
- rs1709034856
- ClinGen CA353674621
- ClinVar RCV002245349
- Ensembl rs1709034856
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.816
- AlphaMissense 0.41
- MetaLR 0.99
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.71
- EBI: Pathogenic
- UniProt: Pathogenic