G8R (p.Gly8Arg) variant of CRX (Cone-rod homeobox protein)
G8R (p.Gly8Arg) in CRX (Cone-rod homeobox protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Leber congenital amaurosis 7; Cone-rod dystrophy 2; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G8R (p.Gly8Arg) variant details
- p.Gly8Arg
- rs146240568
- ClinGen CA9544366
- ClinVar RCV001345352
- ClinVar RCV005540401
- Conflicting interpretations
- Leber congenital amaurosis 7; Cone-rod dystrophy 2; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- REVEL 0.32
- CADD 23.80
- PolyPhen-2 1.00
- SIFT 0.06
- ClinVar: Conflicting classifications of pathogenicity (Leber congenital amaurosis 7; Cone-rod dystrophy 2; Inborn genet)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- CRX Homeobox domain domainome 1.0: score -0.0369
- 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)