L16L (p.Leu16Leu) variant of GUCY2D (Retinal guanylyl cyclase 1)
L16L (p.Leu16Leu) in GUCY2D (Retinal guanylyl cyclase 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
L16L (p.Leu16Leu) variant details
- p.Leu16Leu
- gnomAD 17-8003095-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.245
- CADD 9.53
- Most common in the African/African-American population (allele frequency 3.4e-05)
- Structural context available
- Literature evidence available