G9S (p.Gly9Ser) variant of GUCY2D (Retinal guanylyl cyclase 1)
G9S (p.Gly9Ser) in GUCY2D (Retinal guanylyl cyclase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
G9S (p.Gly9Ser) variant details
- p.Gly9Ser
- gnomAD 17-8003072-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- REVEL 0.27
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 24.10
- PolyPhen-2 0.93
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available