L47V (p.Leu47Val) variant of PROC (Vitamin K-dependent protein C)
L47V (p.Leu47Val) in PROC (Vitamin K-dependent protein C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
L47V (p.Leu47Val) variant details
- p.Leu47Val
- gnomAD 2-127421351-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- REVEL 0.59
- CADD 21.80
- PolyPhen-2 0.98
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available