L40M (p.Leu40Met) variant of GUCY2D (Retinal guanylyl cyclase 1)
L40M (p.Leu40Met) in GUCY2D (Retinal guanylyl cyclase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
L40M (p.Leu40Met) variant details
- p.Leu40Met
- gnomAD 17-8003165-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.28
- ESM-1b 1.00
- AlphaMissense 0.21
- CADD 15.60
- PolyPhen-2 0.71
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available