R768Q (p.Arg768Gln) variant of GUCY2D (Retinal guanylyl cyclase 1)
R768Q (p.Arg768Gln) 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 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
R768Q (p.Arg768Gln) variant details
- p.Arg768Gln
- rs750889782
- ClinGen CA8366083
- ClinVar RCV000678575
- ClinVar RCV001003041
- Pathogenic
- GUCY2D-related recessive retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.782
- REVEL 0.73
- ESM-1b 1.00
- AlphaMissense 0.43
- CADD 32.00
- PolyPhen-2 0.98
- SIFT 0.04
- ClinVar: Pathogenic (GUCY2D-related recessive retinopathy)
- EBI: Pathogenic (in LCA1 and CSNB1I)
- UniProt: Pathogenic (in LCA1 and CSNB1I)
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. (PMID 30285347)
- Cited in: POLR3-Related Leukodystrophy. (PMID 22855961)