G18S (p.Gly18Ser) variant of GUCY2D (Retinal guanylyl cyclase 1)
G18S (p.Gly18Ser) 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 and structural context.
G18S (p.Gly18Ser) variant details
- p.Gly18Ser
- TOPMed rs1975659164
- Missense
- Variant Prioritization Score for Impact Estimate 0.145
- REVEL 0.13
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 10.70
- PolyPhen-2 0.00
- SIFT 0.65
- Population evidence available
- Structural context available