E67K (p.Glu67Lys) variant of PROC (Vitamin K-dependent protein C)
E67K (p.Glu67Lys) in PROC (Vitamin K-dependent protein C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Thrombophilia due to protein C deficiency, autosomal dominant. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
E67K (p.Glu67Lys) variant details
- p.Glu67Lys
- rs1448630830
- ClinGen CA348398122
- cosmic curated COSV99300
- ClinVar RCV000761310
- Likely pathogenic
- Thrombophilia due to protein C deficiency, autosomal dominant
- Missense
- Variant Prioritization Score for Impact Estimate 0.857
- REVEL 0.89
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Thrombophilia due to protein C deficiency, autosomal dominant)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available