A5D (p.Ala5Asp) variant of GUCY2D (Retinal guanylyl cyclase 1)
A5D (p.Ala5Asp) in GUCY2D (Retinal guanylyl cyclase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
A5D (p.Ala5Asp) variant details
- p.Ala5Asp
- gnomAD 17-8003061-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.201
- REVEL 0.09
- ESM-1b 0.28
- AlphaMissense 0.17
- CADD 15.10
- PolyPhen-2 0.05
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available