M406I (p.Met406Ile) variant of PROC (Vitamin K-dependent protein C)
M406I (p.Met406Ile) 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 dominant; Thrombophilia due. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
M406I (p.Met406Ile) variant details
- p.Met406Ile
- rs780456728
- ClinGen CA1859548
- ClinVar RCV001946007
- ClinVar RCV004796685
- Pathogenic
- Thrombophilia due to protein C deficiency, autosomal dominant; Thrombophilia due
- Missense
- Variant Prioritization Score for Impact Estimate 0.776
- REVEL 0.78
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Thrombophilia due to protein C deficiency, autosomal dominant; T)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available