I445M (p.Ile445Met) variant of PROC (Vitamin K-dependent protein C)
I445M (p.Ile445Met) 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 recessive. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
I445M (p.Ile445Met) variant details
- p.Ile445Met
- rs121918157
- ClinGen CA114422
- ClinVar RCV000000711
- UniProt VAR 006710
- Pathogenic
- Thrombophilia due to protein C deficiency, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.548
- REVEL 0.71
- CADD 17.10
- PolyPhen-2 0.39
- SIFT 0.01
- ClinVar: Pathogenic (Thrombophilia due to protein C deficiency, autosomal recessive)
- EBI: Pathogenic (in patients with PROC deficiency)
- UniProt: Pathogenic (in patients with PROC deficiency)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Compound heterozygosity in a family with protein C deficiency illustrating the complexity of the underlying molecular… (PMID 8128429)