R28L (p.Arg28Leu) variant of GUCY2D (Retinal guanylyl cyclase 1)
R28L (p.Arg28Leu) 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.
R28L (p.Arg28Leu) variant details
- p.Arg28Leu
- gnomAD 17-8003130-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- REVEL 0.16
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 9.10
- PolyPhen-2 0.00
- SIFT 0.74
- Population evidence available
- Structural context available
- Literature evidence available