C639F (p.Cys639Phe) variant of PROS1 (Vitamin K-dependent protein S)
C639F (p.Cys639Phe) 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 Thrombophilia due to protein S deficiency, autosomal dominant. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes published literature and structural context.
C639F (p.Cys639Phe) variant details
- p.Cys639Phe
- rs1576170616
- ClinGen CA353669961
- ClinVar RCV003313879
- UniProt VAR 046884
- Uncertain significance
- Thrombophilia due to protein S deficiency, autosomal dominant
- Missense
- Variant Prioritization Score for Impact Estimate 0.829
- AlphaMissense 0.97
- MetaLR 0.81
- MetaSVM 0.82
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.69
- ClinVar: Uncertain significance (Thrombophilia due to protein S deficiency, autosomal dominant)
- EBI: Pathogenic (in THPH5)
- UniProt: Pathogenic (in THPH5)
- Structural context available
- Cited in: Identification of three novel mutations in hereditary protein S deficiency. (PMID 9031443)
- Cited in: The management of depression during pregnancy: a report from the American Psychiatric Association and the American… (PMID 20027064)