W444C (p.Trp444Cys) variant of PROC (Vitamin K-dependent protein C)
W444C (p.Trp444Cys) in PROC (Vitamin K-dependent protein C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Thrombophilia due to protein C deficiency, autosomal dominant. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
W444C (p.Trp444Cys) variant details
- p.Trp444Cys
- rs121918142
- ClinGen CA114387
- ClinVar RCV000000691
- UniProt VAR 006709
- Pathogenic
- Thrombophilia due to protein C deficiency, autosomal dominant
- Missense
- Variant Prioritization Score for Impact Estimate 0.869
- REVEL 0.93
- CADD 27.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Thrombophilia due to protein C deficiency, autosomal dominant)
- EBI: Pathogenic (in THPH3)
- UniProt: Pathogenic (in THPH3)
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available
- Cited in: Hereditary thrombophilia: identification of nonsense and missense mutations in the protein C gene. (PMID 2437584)
- Cited in: Two novel mutations responsible for hereditary type I protein C deficiency: characterization by denaturing gradient gel… (PMID 1301959)