C4C (p.Cys4Cys) variant of GUCY2D (Retinal guanylyl cyclase 1)
C4C (p.Cys4Cys) in GUCY2D (Retinal guanylyl cyclase 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
C4C (p.Cys4Cys) variant details
- p.Cys4Cys
- gnomAD 17-8003059-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.288
- CADD 11.60
- Most common in the African/African-American population (allele frequency 6.7e-05)
- Structural context available
- Literature evidence available