G9C (p.Gly9Cys) variant of GUCY2D (Retinal guanylyl cyclase 1)
G9C (p.Gly9Cys) in GUCY2D (Retinal guanylyl cyclase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
G9C (p.Gly9Cys) variant details
- p.Gly9Cys
- gnomAD 17-8003072-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.37
- ESM-1b 0.00
- AlphaMissense 0.17
- CADD 24.70
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available