P210L (p.Pro210Leu) variant of PROC (Vitamin K-dependent protein C)
P210L (p.Pro210Leu) 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 Hereditary thrombophilia due to congenital protein C deficiency; Thrombophilia d. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
P210L (p.Pro210Leu) variant details
- p.Pro210Leu
- rs121918145
- ClinGen CA114394
- cosmic curated COSV52167
- ClinVar RCV000000696
- Pathogenic/Likely pathogenic
- Hereditary thrombophilia due to congenital protein C deficiency; Thrombophilia d
- Missense
- Variant Prioritization Score for Impact Estimate 0.597
- REVEL 0.54
- CADD 16.00
- PolyPhen-2 0.26
- SIFT 0.11
- ClinVar: Pathogenic/Likely pathogenic (Hereditary thrombophilia due to congenital protein C deficiency;)
- EBI: Pathogenic (in THPH3)
- UniProt: Pathogenic (in THPH3)
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: Homozygous protein C deficiency with late onset and recurrent coumarin-induced skin necrosis. (PMID 1347608)
- Cited in: Genetic mutations in ten unrelated American patients with symptomatic type 1 protein C deficiency. (PMID 8292730)