V76M (p.Val76Met) variant of PROC (Vitamin K-dependent protein C)
V76M (p.Val76Met) 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 Abnormal thrombosis; Cerebral palsy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
V76M (p.Val76Met) variant details
- p.Val76Met
- rs121918149
- ClinGen CA114404
- ClinVar RCV000000700
- ClinVar RCV000852081
- Pathogenic/Likely pathogenic
- Abnormal thrombosis; Cerebral palsy
- Missense
- Variant Prioritization Score for Impact Estimate 0.535
- REVEL 0.65
- CADD 22.60
- PolyPhen-2 0.72
- SIFT 0.12
- ClinVar: Pathogenic/Likely pathogenic (Abnormal thrombosis; Cerebral palsy)
- EBI: Pathogenic (in THPH3)
- UniProt: Pathogenic (in THPH3)
- Most common in the REMAINING population (allele frequency 0.00031)
- Structural context available
- Cited in: Protein CVermont: symptomatic type II protein C deficiency associated with two GLA domain mutations. (PMID 1347706)
- Cited in: Two novel mutations responsible for hereditary type I protein C deficiency: characterization by denaturing gradient gel… (PMID 1301959)