G95E (p.Gly95Glu) variant of PROS1 (Vitamin K-dependent protein S)
G95E (p.Gly95Glu) in PROS1 (Vitamin K-dependent protein S) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Thrombophilia due to protein S deficiency, autosomal dominant; Thr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and published literature.
G95E (p.Gly95Glu) variant details
- p.Gly95Glu
- rs144526169
- ClinGen CA211753
- ClinVar RCV000148760
- ClinVar RCV000851762
- Conflicting interpretations
- not provided; Thrombophilia due to protein S deficiency, autosomal dominant; Thr
- Missense
- Variant Prioritization Score for Impact Estimate 0.629
- REVEL 0.72
- CADD 20.80
- PolyPhen-2 0.68
- SIFT 0.03
- ClinVar: Conflicting classifications of pathogenicity (not provided; Thrombophilia due to protein S deficiency, autosom)
- EBI: Pathogenic (in THPH5)
- UniProt: Pathogenic (in THPH5)
- Most common in the HGDP:BASQUE population (allele frequency 0.023)
- Cited in: Identification of 19 protein S gene mutations in patients with phenotypic protein S deficiency and thrombosis. Protein… (PMID 8943854)
- Cited in: The management of depression during pregnancy: a report from the American Psychiatric Association and the American… (PMID 20027064)