P37L (p.Pro37Leu) variant of GUCY2D (Retinal guanylyl cyclase 1)
P37L (p.Pro37Leu) in GUCY2D (Retinal guanylyl cyclase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
P37L (p.Pro37Leu) variant details
- p.Pro37Leu
- gnomAD 17-8003157-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.121
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.13
- CADD 0.38
- PolyPhen-2 0.00
- SIFT 0.80
- Population evidence available
- Structural context available
- Literature evidence available