C147Y (p.Cys147Tyr) variant of PROC (Vitamin K-dependent protein C)
C147Y (p.Cys147Tyr) in PROC (Vitamin K-dependent protein C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Reduced protein C activity; Thrombophilia due to protein C deficie. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
C147Y (p.Cys147Tyr) variant details
- p.Cys147Tyr
- rs1247269491
- ClinGen CA348399818
- ClinVar RCV000851793
- ClinVar RCV002281128
- Likely pathogenic
- not provided; Reduced protein C activity; Thrombophilia due to protein C deficie
- Missense
- Variant Prioritization Score for Impact Estimate 0.797
- REVEL 0.82
- CADD 26.40
- PolyPhen-2 0.87
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided; Reduced protein C activity; Thrombophilia due to p)
- EBI: Likely pathogenic (in patients with PROC deficiency)
- UniProt: Likely pathogenic (in patients with PROC deficiency)
- Most common in the HGDP:JAPANESE population (allele frequency 0.018)
- Structural context available