L33M (p.Leu33Met) variant of GUCY2D (Retinal guanylyl cyclase 1)
L33M (p.Leu33Met) in GUCY2D (Retinal guanylyl cyclase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
L33M (p.Leu33Met) variant details
- p.Leu33Met
- gnomAD 17-8003144-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.136
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.14
- CADD 11.10
- PolyPhen-2 0.14
- SIFT 0.25
- Population evidence available
- Structural context available
- Literature evidence available