V339M (p.Val339Met) variant of PROC (Vitamin K-dependent protein C)
V339M (p.Val339Met) 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 Inborn genetic diseases; not provided; Thrombophilia due to protein C deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
V339M (p.Val339Met) variant details
- p.Val339Met
- rs121918158
- ClinGen CA114425
- ClinVar RCV000000712
- ClinVar RCV001266003
- Pathogenic
- Inborn genetic diseases; not provided; Thrombophilia due to protein C deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.778
- REVEL 0.79
- CADD 24.50
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic (Inborn genetic diseases; not provided; Thrombophilia due to prot)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Cited in: A novel point mutation (Val 297-->Met) in the serine proteinase domain of protein C in a patient with both venous and… (PMID 8218861)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)