G18D (p.Gly18Asp) variant of GUCY2D (Retinal guanylyl cyclase 1)
G18D (p.Gly18Asp) in GUCY2D (Retinal guanylyl cyclase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
G18D (p.Gly18Asp) variant details
- p.Gly18Asp
- gnomAD rs1405042954
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 8.06
- PolyPhen-2 0.00
- SIFT 0.34
- Most common in the Latino/Admixed American population (allele frequency 2.9e-05)
- Structural context available