p.Arg31 Pro37del variant of GUCY2D (Retinal guanylyl cyclase 1)
p.Arg31 Pro37del in GUCY2D (Retinal guanylyl cyclase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
p.Arg31 Pro37del variant details
- rs1567956884
- gnomAD 17-8003120-TCCCTG
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.357
- CADD 13.60
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available
- Literature evidence available