R28S (p.Arg28Ser) variant of GUCY2D (Retinal guanylyl cyclase 1)
R28S (p.Arg28Ser) in GUCY2D (Retinal guanylyl cyclase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
R28S (p.Arg28Ser) variant details
- p.Arg28Ser
- gnomAD 17-8003129-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.109
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 0.89
- Population evidence available
- Structural context available
- Literature evidence available