R7G (p.Arg7Gly) variant of GUCY2D (Retinal guanylyl cyclase 1)
R7G (p.Arg7Gly) in GUCY2D (Retinal guanylyl cyclase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
R7G (p.Arg7Gly) variant details
- p.Arg7Gly
- gnomAD 17-8003066-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.19
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 17.50
- PolyPhen-2 0.06
- SIFT 0.30
- Population evidence available
- Structural context available
- Literature evidence available