P27H (p.Pro27His) variant of GUCY2D (Retinal guanylyl cyclase 1)
P27H (p.Pro27His) in GUCY2D (Retinal guanylyl cyclase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
P27H (p.Pro27His) variant details
- p.Pro27His
- gnomAD 17-8003127-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.16
- ESM-1b 0.92
- AlphaMissense 0.13
- CADD 16.30
- PolyPhen-2 0.26
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available