L11F (p.Leu11Phe) variant of GUCY2D (Retinal guanylyl cyclase 1)
L11F (p.Leu11Phe) in GUCY2D (Retinal guanylyl cyclase 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
L11F (p.Leu11Phe) variant details
- p.Leu11Phe
- gnomAD 17-8003074-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.251
- CADD 24.10
- Population evidence available
- Structural context available
- Literature evidence available