V26M (p.Val26Met) variant of PROC (Vitamin K-dependent protein C)
V26M (p.Val26Met) 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 Reduced protein C activity. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
V26M (p.Val26Met) variant details
- p.Val26Met
- rs754243426
- ClinGen CA1859234
- ClinVar RCV000851876
- ExAC rs754243426
- Likely pathogenic
- Reduced protein C activity
- Missense
- Variant Prioritization Score for Impact Estimate 0.816
- REVEL 0.87
- CADD 33.00
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Likely pathogenic (Reduced protein C activity)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available