R28C (p.Arg28Cys) variant of GUCY2D (Retinal guanylyl cyclase 1)
R28C (p.Arg28Cys) in GUCY2D (Retinal guanylyl cyclase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
R28C (p.Arg28Cys) variant details
- p.Arg28Cys
- TOPMed rs1391079477
- Missense
- Variant Prioritization Score for Impact Estimate 0.166
- REVEL 0.24
- ESM-1b 0.00
- AlphaMissense 0.18
- CADD 0.46
- PolyPhen-2 0.06
- SIFT 0.18
- Population evidence available
- Structural context available