C17S (p.Cys17Ser) variant of GUCY2D (Retinal guanylyl cyclase 1)
C17S (p.Cys17Ser) in GUCY2D (Retinal guanylyl cyclase 1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
C17S (p.Cys17Ser) variant details
- p.Cys17Ser
- TOPMed rs1008930073
- gnomAD rs1008930073
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.179
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 9.93
- PolyPhen-2 0.00
- SIFT 0.57
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 7e-05)
- Structural context available