H52T (p.His52Thr) variant of PROC (Vitamin K-dependent protein C)
H52T (p.His52Thr) in PROC (Vitamin K-dependent protein C) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
H52T (p.His52Thr) variant details
- p.His52Thr
- rs1196026290
- gnomAD 2-127421364-GT-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.572
- CADD 15.80
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available