G18C (p.Gly18Cys) variant of GUCY2D (Retinal guanylyl cyclase 1)
G18C (p.Gly18Cys) 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.
G18C (p.Gly18Cys) variant details
- p.Gly18Cys
- gnomAD 17-8003099-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.151
- REVEL 0.13
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 15.40
- PolyPhen-2 0.00
- SIFT 0.06
- Most common in the Ashkenazi Jewish population (allele frequency 4e-05)
- Structural context available
- Literature evidence available