A5A (p.Ala5Ala) variant of GUCY2D (Retinal guanylyl cyclase 1)
A5A (p.Ala5Ala) in GUCY2D (Retinal guanylyl cyclase 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
A5A (p.Ala5Ala) variant details
- p.Ala5Ala
- gnomAD 17-8003062-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.282
- CADD 13.60
- Most common in the East Asian population (allele frequency 2.9e-05)
- Structural context available
- Literature evidence available