P30P (p.Pro30Pro) variant of GUCY2D (Retinal guanylyl cyclase 1)
P30P (p.Pro30Pro) in GUCY2D (Retinal guanylyl cyclase 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
P30P (p.Pro30Pro) variant details
- p.Pro30Pro
- gnomAD 17-8003137-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.41
- CADD 6.60
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available
- Literature evidence available