C17Y (p.Cys17Tyr) variant of GUCY2D (Retinal guanylyl cyclase 1)
C17Y (p.Cys17Tyr) in GUCY2D (Retinal guanylyl cyclase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
C17Y (p.Cys17Tyr) variant details
- p.Cys17Tyr
- ExAC rs757041611
- gnomAD rs757041611
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.26
- ESM-1b 0.64
- AlphaMissense 0.12
- CADD 15.00
- PolyPhen-2 0.01
- SIFT 0.94
- Most common in the REMAINING population (allele frequency 8.7e-05)
- Structural context available