D393N (p.Asp393Asn) variant of PROC (Vitamin K-dependent protein C)
D393N (p.Asp393Asn) in PROC (Vitamin K-dependent protein C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Reduced protein C activity; Thrombophilia due to protei. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
D393N (p.Asp393Asn) variant details
- p.Asp393Asn
- rs1052269597
- ClinGen CA55351296
- ClinVar RCV003810921
- TOPMed rs1052269597
- Uncertain significance
- Inborn genetic diseases; Reduced protein C activity; Thrombophilia due to protei
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.33
- CADD 23.60
- PolyPhen-2 0.85
- SIFT 0.08
- ClinVar: Uncertain significance (Thrombophilia due to protein C deficiency, autosomal dominant)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available