S45F (p.Ser45Phe) variant of PROC (Vitamin K-dependent protein C)
S45F (p.Ser45Phe) in PROC (Vitamin K-dependent protein C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
S45F (p.Ser45Phe) variant details
- p.Ser45Phe
- gnomAD 2-127421346-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.518
- REVEL 0.45
- CADD 18.20
- PolyPhen-2 0.78
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available