W21C (p.Trp21Cys) variant of GUCY2D (Retinal guanylyl cyclase 1)
W21C (p.Trp21Cys) 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.
W21C (p.Trp21Cys) variant details
- p.Trp21Cys
- gnomAD 17-8003110-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.142
- REVEL 0.11
- ESM-1b 0.00
- AlphaMissense 0.15
- CADD 15.70
- PolyPhen-2 0.09
- SIFT 0.18
- Population evidence available
- Structural context available
- Literature evidence available