R51S (p.Arg51Ser) variant of PROC (Vitamin K-dependent protein C)
R51S (p.Arg51Ser) in PROC (Vitamin K-dependent protein C) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in patients with PROC deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
R51S (p.Arg51Ser) variant details
- p.Arg51Ser
- ExAC rs764546127
- TOPMed rs764546127
- gnomAD rs764546127
- Pathogenic
- in patients with PROC deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.46
- CADD 20.90
- PolyPhen-2 0.74
- SIFT 0.00
- EBI: Pathogenic (in patients with PROC deficiency)
- UniProt: Pathogenic (in patients with PROC deficiency)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available