D297H (p.Asp297His) variant of PROC (Vitamin K-dependent protein C)
D297H (p.Asp297His) in PROC (Vitamin K-dependent protein C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Thrombophilia due to protein C deficiency, autosomal recessive; Thrombophilia du. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
D297H (p.Asp297His) variant details
- p.Asp297His
- rs199469471
- ClinGen CA1859481
- ClinVar RCV000821496
- ClinVar RCV002487843
- Pathogenic/Likely pathogenic
- Thrombophilia due to protein C deficiency, autosomal recessive; Thrombophilia du
- Missense
- Variant Prioritization Score for Impact Estimate 0.788
- REVEL 0.88
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Thrombophilia due to protein C deficiency, autosomal recessive;)
- EBI: Pathogenic (in THPH3)
- UniProt: Pathogenic (in THPH3)
- Most common in the East Asian population (allele frequency 0.00077)
- Structural context available
- Cited in: Genetic background analysis of protein C deficiency demonstrates a recurrent mutation associated with venous thrombosis… (PMID 22545135)
- Cited in: Compound heterozygous protein C deficiency in a family with venous thrombosis: Identification and in vitro study of… (PMID 25748729)