C4F (p.Cys4Phe) variant of GUCY2D (Retinal guanylyl cyclase 1)
C4F (p.Cys4Phe) in GUCY2D (Retinal guanylyl cyclase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
C4F (p.Cys4Phe) variant details
- p.Cys4Phe
- gnomAD 17-8003058-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 21.90
- PolyPhen-2 0.01
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available