P34T (p.Pro34Thr) variant of GUCY2D (Retinal guanylyl cyclase 1)
P34T (p.Pro34Thr) in GUCY2D (Retinal guanylyl cyclase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
P34T (p.Pro34Thr) variant details
- p.Pro34Thr
- gnomAD 17-8003147-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.13
- ESM-1b 0.45
- AlphaMissense 0.12
- CADD 5.52
- PolyPhen-2 0.01
- SIFT 0.30
- Population evidence available
- Structural context available
- Literature evidence available