G10V (p.Gly10Val) variant of GUCY2D (Retinal guanylyl cyclase 1)
G10V (p.Gly10Val) in GUCY2D (Retinal guanylyl cyclase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
G10V (p.Gly10Val) variant details
- p.Gly10Val
- gnomAD 17-8003076-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.30
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 23.00
- PolyPhen-2 0.15
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available