A23S (p.Ala23Ser) variant of GUCY2D (Retinal guanylyl cyclase 1)
A23S (p.Ala23Ser) in GUCY2D (Retinal guanylyl cyclase 1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of GUCY2D-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
A23S (p.Ala23Ser) variant details
- p.Ala23Ser
- TOPMed rs1244515419
- gnomAD rs1244515419
- Uncertain significance
- GUCY2D-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.11
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 7.91
- PolyPhen-2 0.00
- SIFT 0.81
- ClinVar: Uncertain significance (GUCY2D-related disorder)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.8e-05)
- Structural context available