R515C (p.Arg515Cys) variant of PROS1 (Vitamin K-dependent protein S)
R515C (p.Arg515Cys) in PROS1 (Vitamin K-dependent protein S) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Protein S deficiency disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes published literature and structural context.
R515C (p.Arg515Cys) variant details
- p.Arg515Cys
- rs199469500
- ClinGen CA78522141
- NCI-TCGA Cosmic COSV6777
- cosmic curated COSV67776
- Likely pathogenic
- Protein S deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.671
- AlphaMissense 0.56
- MetaLR 0.67
- MetaSVM 0.30
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.66
- ClinVar: Likely pathogenic (Protein S deficiency disease)
- EBI: Pathogenic (in THPH5)
- UniProt: Pathogenic (in THPH5)
- Structural context available
- Cited in: Molecular basis of a hereditary type I protein S deficiency caused by a substitution of Cys for Arg474. (PMID 8639833)
- Cited in: Molecular basis for protein S hereditary deficiency: genetic defects observed in 118 patients with type I and type IIa… (PMID 8765219)