A3D (p.Ala3Asp) variant of GUCY2D (Retinal guanylyl cyclase 1)
A3D (p.Ala3Asp) in GUCY2D (Retinal guanylyl cyclase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
A3D (p.Ala3Asp) variant details
- p.Ala3Asp
- gnomAD 17-8003055-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.43
- ESM-1b 0.32
- AlphaMissense 0.15
- CADD 21.50
- PolyPhen-2 0.45
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available