W14* (p.Trp14Ter) variant of PROC (Vitamin K-dependent protein C)
W14* (p.Trp14Ter) in PROC (Vitamin K-dependent protein C) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in patients with PROC deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
W14* (p.Trp14Ter) variant details
- p.Trp14Ter
- rs758576042
- ClinGen CA55341142
- ClinVar RCV001248247
- ClinVar RCV002245902
- Pathogenic
- in patients with PROC deficiency
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.471
- CADD 36.00
- EBI: Pathogenic (in patients with PROC deficiency)
- UniProt: Pathogenic (in patients with PROC deficiency)
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available