C4S (p.Cys4Ser) variant of GUCY2D (Retinal guanylyl cyclase 1)
C4S (p.Cys4Ser) in GUCY2D (Retinal guanylyl cyclase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
C4S (p.Cys4Ser) variant details
- p.Cys4Ser
- gnomAD 17-8003057-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.121
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 9.51
- PolyPhen-2 0.00
- SIFT 0.24
- Population evidence available
- Structural context available
- Literature evidence available