C475F (p.Cys475Phe) variant of PROS1 (Vitamin K-dependent protein S)
C475F (p.Cys475Phe) 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 population frequency data.
C475F (p.Cys475Phe) variant details
- p.Cys475Phe
- rs766692725
- ClinGen CA2503194
- ClinVar RCV003529470
- ExAC rs766692725
- Pathogenic
- Thrombophilia due to protein S deficiency, autosomal dominant
- Missense
- Variant Prioritization Score for Impact Estimate 0.91
- AlphaMissense 0.95
- MetaLR 0.97
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.70
- ClinVar: Pathogenic (Thrombophilia due to protein S deficiency, autosomal dominant)
- EBI: Pathogenic (in THPH5)
- UniProt: Pathogenic (in THPH5)
- Population evidence available