G9D (p.Gly9Asp) variant of GUCY2D (Retinal guanylyl cyclase 1)
G9D (p.Gly9Asp) in GUCY2D (Retinal guanylyl cyclase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
G9D (p.Gly9Asp) variant details
- p.Gly9Asp
- gnomAD 17-8003073-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.497
- REVEL 0.34
- ESM-1b 0.17
- AlphaMissense 0.11
- CADD 24.90
- PolyPhen-2 0.96
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)
- Structural context available
- Literature evidence available