F181V (p.Phe181Val) variant of PROC (Vitamin K-dependent protein C)
F181V (p.Phe181Val) 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 dominant; Thrombophilia due. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
F181V (p.Phe181Val) variant details
- p.Phe181Val
- rs199469470
- ClinGen CA1859385
- ClinVar RCV001927369
- ClinVar RCV002503517
- Pathogenic/Likely pathogenic
- Thrombophilia due to protein C deficiency, autosomal dominant; Thrombophilia due
- Missense
- Variant Prioritization Score for Impact Estimate 0.64
- REVEL 0.68
- CADD 23.40
- PolyPhen-2 0.07
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (Thrombophilia due to protein C deficiency, autosomal dominant; T)
- EBI: Pathogenic (in patients with PROC deficiency)
- UniProt: Pathogenic (in patients with PROC deficiency)
- Most common in the East Asian population (allele frequency 0.0013)
- Structural context available
- Cited in: Genetic background analysis of protein C deficiency demonstrates a recurrent mutation associated with venous thrombosis… (PMID 22545135)