C4G (p.Cys4Gly) variant of GUCY2D (Retinal guanylyl cyclase 1)
C4G (p.Cys4Gly) in GUCY2D (Retinal guanylyl cyclase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
C4G (p.Cys4Gly) variant details
- p.Cys4Gly
- gnomAD rs1893310079
- Missense
- Variant Prioritization Score for Impact Estimate 0.157
- REVEL 0.16
- ESM-1b 0.00
- AlphaMissense 0.05
- CADD 12.00
- PolyPhen-2 0.00
- SIFT 0.11
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available