C247S (p.Cys247Ser) variant of PROS1 (Vitamin K-dependent protein S)
C247S (p.Cys247Ser) in PROS1 (Vitamin K-dependent protein S) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Thrombophilia due to protein S deficiency, autosomal dominant. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
C247S (p.Cys247Ser) variant details
- p.Cys247Ser
- rs2107158284
- ClinGen CA353673022
- ClinVar RCV001353254
- Ensembl rs2107158284
- Pathogenic
- Thrombophilia due to protein S deficiency, autosomal dominant
- Missense
- Variant Prioritization Score for Impact Estimate 0.906
- AlphaMissense 0.98
- MetaLR 0.99
- MetaSVM 0.92
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.69
- ClinVar: Pathogenic (Thrombophilia due to protein S deficiency, autosomal dominant)
- EBI: Pathogenic (in THPH5)
- UniProt: Pathogenic (in THPH5)
- Structural context available
- Cited in: The management of depression during pregnancy: a report from the American Psychiatric Association and the American… (PMID 20027064)