A8A (p.Ala8Ala) variant of GUCY2D (Retinal guanylyl cyclase 1)
A8A (p.Ala8Ala) in GUCY2D (Retinal guanylyl cyclase 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
A8A (p.Ala8Ala) variant details
- p.Ala8Ala
- rs987666168
- gnomAD 17-8003071-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.171
- CADD 9.61
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available
- Literature evidence available