P19H (p.Pro19His) variant of GUCY2D (Retinal guanylyl cyclase 1)
P19H (p.Pro19His) 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.
P19H (p.Pro19His) variant details
- p.Pro19His
- gnomAD 17-8003103-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.23
- ESM-1b 0.47
- AlphaMissense 0.11
- CADD 13.90
- PolyPhen-2 0.42
- SIFT 0.22
- Population evidence available
- Structural context available
- Literature evidence available