S54R (p.Ser54Arg) variant of PROC (Vitamin K-dependent protein C)
S54R (p.Ser54Arg) in PROC (Vitamin K-dependent protein C) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
S54R (p.Ser54Arg) variant details
- p.Ser54Arg
- gnomAD 2-127421372-A-AGA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.459
- CADD 23.30
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available