p.Pro37 Leu38del variant of GUCY2D (Retinal guanylyl cyclase 1)
p.Pro37 Leu38del in GUCY2D (Retinal guanylyl cyclase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
p.Pro37 Leu38del variant details
- gnomAD 17-8003151-GGCTCC
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.147
- CADD 9.34
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available
- Literature evidence available