E28R (p.Glu28Arg) variant of PRKG1 (cGMP-dependent protein kinase 1)
E28R (p.Glu28Arg) in PRKG1 (cGMP-dependent protein kinase 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
E28R (p.Glu28Arg) variant details
- p.Glu28Arg
- gnomAD 10-50991458-C-CA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.548
- CADD 28.10
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available