H149P (p.His149Pro) variant of PROC (Vitamin K-dependent protein C)
H149P (p.His149Pro) 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 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
H149P (p.His149Pro) variant details
- p.His149Pro
- rs121918159
- ClinGen CA114428
- ClinVar RCV000000714
- UniProt VAR 006658
- Pathogenic
- Thrombophilia due to protein C deficiency, autosomal dominant
- Missense
- Variant Prioritization Score for Impact Estimate 0.69
- REVEL 0.82
- CADD 24.20
- PolyPhen-2 0.92
- SIFT 0.00
- ClinVar: Pathogenic (Thrombophilia due to protein C deficiency, autosomal dominant)
- EBI: Pathogenic (in patients with PROC deficiency)
- UniProt: Pathogenic (in patients with PROC deficiency)
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: An unknown genetic defect increases venous thrombosis risk, through interaction with protein C deficiency. (PMID 9683579)