G10R (p.Gly10Arg) variant of GUCY2D (Retinal guanylyl cyclase 1)
G10R (p.Gly10Arg) in GUCY2D (Retinal guanylyl cyclase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
G10R (p.Gly10Arg) variant details
- p.Gly10Arg
- gnomAD 17-8003075-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.208
- REVEL 0.11
- ESM-1b 0.00
- AlphaMissense 0.14
- CADD 20.40
- PolyPhen-2 0.01
- SIFT 0.15
- Most common in the East Asian population (allele frequency 2.9e-05)
- Structural context available
- Literature evidence available