R28A (p.Arg28Ala) variant of GUCY2D (Retinal guanylyl cyclase 1)
R28A (p.Arg28Ala) in GUCY2D (Retinal guanylyl cyclase 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
R28A (p.Arg28Ala) variant details
- p.Arg28Ala
- gnomAD 17-8003125-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.204
- CADD 17.40
- Population evidence available
- Structural context available
- Literature evidence available