P321L (p.Pro321Leu) variant of PROC (Vitamin K-dependent protein C)
P321L (p.Pro321Leu) 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; Deep venous throm. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
P321L (p.Pro321Leu) variant details
- p.Pro321Leu
- rs1321566264
- ClinGen CA348405099
- NCI-TCGA Cosmic COSV9930
- cosmic curated COSV99300
- Pathogenic/Likely pathogenic
- Thrombophilia due to protein C deficiency, autosomal dominant; Deep venous throm
- Missense
- Variant Prioritization Score for Impact Estimate 0.856
- REVEL 0.91
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Thrombophilia due to protein C deficiency, autosomal dominant; D)
- EBI: Pathogenic (in THPH3)
- UniProt: Pathogenic (in THPH3)
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Cited in: Genetic mutations in ten unrelated American patients with symptomatic type 1 protein C deficiency. (PMID 8292730)
- Cited in: Twelve novel and two recurrent mutations in 14 Austrian families with hereditary protein C deficiency. (PMID 8499565)