E56Q (p.Glu56Gln) variant of PROC (Vitamin K-dependent protein C)
E56Q (p.Glu56Gln) in PROC (Vitamin K-dependent protein C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
E56Q (p.Glu56Gln) variant details
- p.Glu56Gln
- gnomAD 2-127421378-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.795
- REVEL 0.89
- CADD 24.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available