Y922C (p.Tyr922Cys) variant of GUCY2D (Retinal guanylyl cyclase 1)
Y922C (p.Tyr922Cys) in GUCY2D (Retinal guanylyl cyclase 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of GUCY2D-related recessive retinopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes structural context.
Y922C (p.Tyr922Cys) variant details
- p.Tyr922Cys
- Ensembl rs1975937690
- Likely pathogenic
- GUCY2D-related recessive retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.988
- ESM-1b 1.00
- AlphaMissense 0.97
- ClinVar: Likely pathogenic (GUCY2D-related recessive retinopathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available