A32A (p.Ala32Ala) variant of GUCY2D (Retinal guanylyl cyclase 1)
A32A (p.Ala32Ala) in GUCY2D (Retinal guanylyl cyclase 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
A32A (p.Ala32Ala) variant details
- p.Ala32Ala
- gnomAD 17-8003143-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.112
- CADD 4.49
- Most common in the East Asian population (allele frequency 3e-05)
- Structural context available
- Literature evidence available