R768W (p.Arg768Trp) variant of GUCY2D (Retinal guanylyl cyclase 1)
R768W (p.Arg768Trp) 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 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
R768W (p.Arg768Trp) variant details
- p.Arg768Trp
- rs61750168
- ClinGen CA226075
- ClinVar RCV000084856
- ClinVar RCV000543628
- Pathogenic
- GUCY2D-related recessive retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.767
- REVEL 0.82
- ESM-1b 1.00
- AlphaMissense 0.50
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Pathogenic (GUCY2D-related recessive retinopathy)
- EBI: Pathogenic (in LCA1 and CSNB1I)
- UniProt: Pathogenic (in LCA1 and CSNB1I)
- Most common in the Amish population (allele frequency 0.0022)
- Structural context available
- Cited in: Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis. (PMID 16505055)
- Cited in: Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients. (PMID 17724218)