E47Q (p.Glu47Gln) variant of PROS1 (Vitamin K-dependent protein S)
E47Q (p.Glu47Gln) 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 Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes published literature.
E47Q (p.Glu47Gln) variant details
- p.Glu47Gln
- rs1709034856
- ClinGen CA353674622
- NCI-TCGA Cosmic COSV1008
- ClinVar RCV001266167
- Uncertain significance
- Inborn genetic diseases
- Missense
- 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
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Pathogenic
- UniProt: Pathogenic
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)