E16* (p.Glu16Ter) variant of PRKG1 (cGMP-dependent protein kinase 1)
E16* (p.Glu16Ter) in PRKG1 (cGMP-dependent protein kinase 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
E16* (p.Glu16Ter) variant details
- p.Glu16Ter
- gnomAD 10-51074636-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.867
- CADD 39.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available