A23A (p.Ala23Ala) variant of GUCY2D (Retinal guanylyl cyclase 1)
A23A (p.Ala23Ala) in GUCY2D (Retinal guanylyl cyclase 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
A23A (p.Ala23Ala) variant details
- p.Ala23Ala
- rs937378694
- gnomAD 17-8003116-T-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.359
- CADD 8.11
- Most common in the African/African-American population (allele frequency 9.7e-05)
- Structural context available
- Literature evidence available