H52A (p.His52Ala) variant of PROC (Vitamin K-dependent protein C)
H52A (p.His52Ala) in PROC (Vitamin K-dependent protein C) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
H52A (p.His52Ala) variant details
- p.His52Ala
- gnomAD 2-127421365-T-TG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.51
- CADD 18.70
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available