R795Q (p.Arg795Gln) variant of GUCY2D (Retinal guanylyl cyclase 1)
R795Q (p.Arg795Gln) 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 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
R795Q (p.Arg795Gln) variant details
- p.Arg795Gln
- rs61750171
- ClinGen CA8366103
- ClinVar RCV000732735
- ClinVar RCV001250839
- Likely pathogenic
- GUCY2D-related recessive retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.85
- REVEL 0.83
- ESM-1b 1.00
- AlphaMissense 0.81
- MetaLR 0.89
- MetaSVM 1.03
- CADD 32.00
- ClinVar: Likely pathogenic (GUCY2D-related recessive retinopathy)
- EBI: Pathogenic (in LCA1)
- UniProt: Pathogenic (in LCA1)
- Most common in the 1KG:BEB population (allele frequency 0.0051)
- Structural context available
- Cited in: Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients. (PMID 17724218)
- Cited in: Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. (PMID 30285347)