C666R (p.Cys666Arg) variant of PROS1 (Vitamin K-dependent protein S)
C666R (p.Cys666Arg) 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 Protein S deficiency disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
C666R (p.Cys666Arg) variant details
- p.Cys666Arg
- rs1302089144
- ClinGen CA353669475
- ClinVar RCV000851732
- UniProt VAR 046890
- Pathogenic
- Protein S deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.833
- REVEL 0.97
- CADD 27.80
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (Protein S deficiency disease)
- EBI: Pathogenic (in THPH5)
- UniProt: Pathogenic (in THPH5)
- Population evidence available
- Structural context available
- Cited in: Genetic analysis, phenotypic diagnosis, and risk of venous thrombosis in families with inherited deficiencies of… (PMID 10706858)
- Cited in: Five novel mutations of the protein S active gene (PROS 1) in 8 Norman families. (PMID 8701404)