F565S (p.Phe565Ser) variant of GUCY2D (Retinal guanylyl cyclase 1)
F565S (p.Phe565Ser) in GUCY2D (Retinal guanylyl cyclase 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of GUCY2D-related recessive retinopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
F565S (p.Phe565Ser) variant details
- p.Phe565Ser
- rs61749755
- ClinGen CA226054
- ClinVar RCV000009944
- ClinVar RCV000084839
- Pathogenic
- GUCY2D-related recessive retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.619
- REVEL 0.49
- ESM-1b 1.00
- AlphaMissense 0.91
- CADD 29.00
- PolyPhen-2 0.98
- SIFT 0.04
- ClinVar: Pathogenic (GUCY2D-related recessive retinopathy)
- EBI: Pathogenic (in LCA1)
- UniProt: Pathogenic (in LCA1)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis. (PMID 16505055)
- Cited in: Genotype-functional-phenotype correlations in photoreceptor guanylate cyclase (GC-E) encoded by GUCY2D. (PMID 29061346)