P289L (p.Pro289Leu) variant of PROC (Vitamin K-dependent protein C)
P289L (p.Pro289Leu) 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 recessive. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
P289L (p.Pro289Leu) variant details
- p.Pro289Leu
- rs121918151
- ClinGen CA114408
- ClinVar RCV000000702
- UniProt VAR 006679
- Pathogenic
- Thrombophilia due to protein C deficiency, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.825
- REVEL 0.86
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Thrombophilia due to protein C deficiency, autosomal recessive)
- EBI: Pathogenic (in THPH4)
- UniProt: Pathogenic (in THPH4)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: A novel homozygous missense mutation in the protein C (PROC) gene causing recurrent venous thrombosis. (PMID 1511988)
- Cited in: Late-onset homozygous protein C deficiency. (PMID 1678832)