A20A (p.Ala20Ala) variant of GUCY2D (Retinal guanylyl cyclase 1)
A20A (p.Ala20Ala) in GUCY2D (Retinal guanylyl cyclase 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
A20A (p.Ala20Ala) variant details
- p.Ala20Ala
- rs1975659801
- gnomAD 17-8003107-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.386
- CADD 8.60
- Population evidence available
- Structural context available
- Literature evidence available