L16S (p.Leu16Ser) variant of GUCY2D (Retinal guanylyl cyclase 1)
L16S (p.Leu16Ser) in GUCY2D (Retinal guanylyl cyclase 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
L16S (p.Leu16Ser) variant details
- p.Leu16Ser
- gnomAD 17-8003085-AC-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.475
- CADD 22.60
- Most common in the Latino/Admixed American population (allele frequency 2.9e-05)
- Structural context available
- Literature evidence available