P12R (p.Pro12Arg) variant of GUCY2D (Retinal guanylyl cyclase 1)
P12R (p.Pro12Arg) in GUCY2D (Retinal guanylyl cyclase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
P12R (p.Pro12Arg) variant details
- p.Pro12Arg
- gnomAD 17-8003082-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.133
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 2.09
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available