R28R (p.Arg28Arg) variant of GUCY2D (Retinal guanylyl cyclase 1)
R28R (p.Arg28Arg) in GUCY2D (Retinal guanylyl cyclase 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
R28R (p.Arg28Arg) variant details
- p.Arg28Arg
- gnomAD 17-8003131-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.119
- CADD 3.79
- Most common in the Non-Finnish European population (allele frequency 3.7e-06)
- Structural context available
- Literature evidence available