E17R (p.Glu17Arg) variant of PRKG1 (cGMP-dependent protein kinase 1)
E17R (p.Glu17Arg) in PRKG1 (cGMP-dependent protein kinase 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
E17R (p.Glu17Arg) variant details
- p.Glu17Arg
- gnomAD 10-50991425-AG-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.619
- CADD 25.10
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available