L29H (p.Leu29His) variant of GUCY2D (Retinal guanylyl cyclase 1)
L29H (p.Leu29His) in GUCY2D (Retinal guanylyl cyclase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
L29H (p.Leu29His) variant details
- p.Leu29His
- gnomAD 17-8003133-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.27
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 11.00
- PolyPhen-2 0.34
- SIFT 0.32
- Population evidence available
- Structural context available
- Literature evidence available