A20E (p.Ala20Glu) variant of GUCY2D (Retinal guanylyl cyclase 1)
A20E (p.Ala20Glu) in GUCY2D (Retinal guanylyl cyclase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
A20E (p.Ala20Glu) variant details
- p.Ala20Glu
- gnomAD 17-8003106-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.145
- REVEL 0.19
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available