R57G (p.Arg57Gly) variant of PRKG1 (cGMP-dependent protein kinase 1)
R57G (p.Arg57Gly) in PRKG1 (cGMP-dependent protein kinase 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
R57G (p.Arg57Gly) variant details
- p.Arg57Gly
- gnomAD 10-50991542-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.643
- CADD 23.90
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available