E62del (p.Glu62del) variant of PROC (Vitamin K-dependent protein C)
E62del (p.Glu62del) in PROC (Vitamin K-dependent protein C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
E62del (p.Glu62del) variant details
- rs1223883395
- gnomAD 2-127421392-AGAG-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.228
- CADD 20.80
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available
- Literature evidence available