R6P (p.Arg6Pro) variant of GUCY2D (Retinal guanylyl cyclase 1)
R6P (p.Arg6Pro) in GUCY2D (Retinal guanylyl cyclase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
R6P (p.Arg6Pro) variant details
- p.Arg6Pro
- gnomAD 17-8003064-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.172
- REVEL 0.16
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 17.60
- PolyPhen-2 0.03
- SIFT 0.29
- Population evidence available
- Structural context available
- Literature evidence available