S141P (p.Ser141Pro) variant of PROC (Vitamin K-dependent protein C)
S141P (p.Ser141Pro) 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 Reduced protein C activity. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
S141P (p.Ser141Pro) variant details
- p.Ser141Pro
- rs1573444020
- ClinGen CA348399714
- ClinVar RCV000852122
- Ensembl rs1573444020
- Likely pathogenic
- Reduced protein C activity
- Missense
- Variant Prioritization Score for Impact Estimate 0.526
- REVEL 0.62
- CADD 25.20
- PolyPhen-2 0.91
- SIFT 0.00
- ClinVar: Likely pathogenic (Reduced protein C activity)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available