S53R (p.Ser53Arg) variant of PROC (Vitamin K-dependent protein C)
S53R (p.Ser53Arg) in PROC (Vitamin K-dependent protein C) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
S53R (p.Ser53Arg) variant details
- p.Ser53Arg
- gnomAD 2-127421370-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.583
- CADD 23.00
- Population evidence available
- Structural context available
- Literature evidence available