R31P (p.Arg31Pro) variant of GUCY2D (Retinal guanylyl cyclase 1)
R31P (p.Arg31Pro) in GUCY2D (Retinal guanylyl cyclase 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
R31P (p.Arg31Pro) variant details
- p.Arg31Pro
- rs61749663
- gnomAD 17-8003133-T-TC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.224
- CADD 19.20
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available