L29P (p.Leu29Pro) variant of GUCY2D (Retinal guanylyl cyclase 1)
L29P (p.Leu29Pro) 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.
L29P (p.Leu29Pro) variant details
- p.Leu29Pro
- gnomAD 17-8003133-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.145
- REVEL 0.13
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 12.40
- PolyPhen-2 0.00
- SIFT 0.15
- Population evidence available
- Structural context available
- Literature evidence available