R57R (p.Arg57Arg) variant of PRKG1 (cGMP-dependent protein kinase 1)
R57R (p.Arg57Arg) in PRKG1 (cGMP-dependent protein kinase 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
R57R (p.Arg57Arg) variant details
- p.Arg57Arg
- rs1341627302
- gnomAD 10-50991547-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.567
- CADD 14.40
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available