A20G (p.Ala20Gly) variant of GUCY2D (Retinal guanylyl cyclase 1)
A20G (p.Ala20Gly) in GUCY2D (Retinal guanylyl cyclase 1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes structural context.
A20G (p.Ala20Gly) variant details
- p.Ala20Gly
- TOPMed rs1340479662
- gnomAD rs1340479662
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- ESM-1b 0.00
- AlphaMissense 0.07
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available