R6C (p.Arg6Cys) variant of GUCY2D (Retinal guanylyl cyclase 1)
R6C (p.Arg6Cys) 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 Cone-rod dystrophy 6; Leber congenital amaurosis 1; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
R6C (p.Arg6Cys) variant details
- p.Arg6Cys
- rs1975657387
- ClinGen CA397942302
- ClinVar RCV001889960
- ClinVar RCV004980848
- Uncertain significance
- Cone-rod dystrophy 6; Leber congenital amaurosis 1; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.19
- ESM-1b 0.00
- AlphaMissense 0.19
- CADD 16.80
- PolyPhen-2 0.00
- SIFT 0.18
- ClinVar: Uncertain significance (Cone-rod dystrophy 6; Leber congenital amaurosis 1; Inborn genet)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- 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)