R35G (p.Arg35Gly) variant of GUCY2D (Retinal guanylyl cyclase 1)
R35G (p.Arg35Gly) in GUCY2D (Retinal guanylyl cyclase 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Leber congenital amaurosis 1; Cone-rod dystrophy 6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
R35G (p.Arg35Gly) variant details
- p.Arg35Gly
- rs1423033093
- ClinGen CA397942742
- ClinVar RCV002029335
- ClinVar RCV003289391
- Uncertain significance
- Inborn genetic diseases; Leber congenital amaurosis 1; Cone-rod dystrophy 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.138
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 0.11
- PolyPhen-2 0.00
- SIFT 0.52
- ClinVar: Uncertain significance (Inborn genetic diseases; Leber congenital amaurosis 1; Cone-rod)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CHS population (allele frequency 0.0049)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)