S54S (p.Ser54Ser) variant of PROC (Vitamin K-dependent protein C)
S54S (p.Ser54Ser) in PROC (Vitamin K-dependent protein C) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
S54S (p.Ser54Ser) variant details
- p.Ser54Ser
- rs1273141289
- gnomAD 2-127421374-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.336
- CADD 7.77
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available