H52H (p.His52His) variant of PROC (Vitamin K-dependent protein C)
H52H (p.His52His) in PROC (Vitamin K-dependent protein C) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
H52H (p.His52His) variant details
- p.His52His
- gnomAD 2-127421368-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.084
- CADD 0.48
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available