A8E (p.Ala8Glu) variant of GUCY2D (Retinal guanylyl cyclase 1)
A8E (p.Ala8Glu) in GUCY2D (Retinal guanylyl cyclase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes structural context.
A8E (p.Ala8Glu) variant details
- p.Ala8Glu
- TOPMed rs1485169567
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- ESM-1b 0.00
- AlphaMissense 0.10
- Structural context available