W22C (p.Trp22Cys) variant of GUCY2D (Retinal guanylyl cyclase 1)
W22C (p.Trp22Cys) in GUCY2D (Retinal guanylyl cyclase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
W22C (p.Trp22Cys) variant details
- p.Trp22Cys
- gnomAD 17-8003113-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.208
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.19
- CADD 17.10
- PolyPhen-2 0.00
- SIFT 0.16
- Population evidence available
- Structural context available
- Literature evidence available