R7Q (p.Arg7Gln) variant of GUCY2D (Retinal guanylyl cyclase 1)
R7Q (p.Arg7Gln) in GUCY2D (Retinal guanylyl cyclase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
R7Q (p.Arg7Gln) variant details
- p.Arg7Gln
- gnomAD 17-8003067-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.137
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 9.88
- PolyPhen-2 0.03
- SIFT 0.47
- Population evidence available
- Structural context available
- Literature evidence available