Q28R (p.Gln28Arg) variant of CRX (Cone-rod homeobox protein)
Q28R (p.Gln28Arg) in CRX (Cone-rod homeobox protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.23 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Q28R (p.Gln28Arg) variant details
- p.Gln28Arg
- rs781577708
- ClinGen CA9544380
- ClinVar RCV001370444
- ClinVar RCV004980395
- Uncertain significance
- Leber congenital amaurosis 7; Cone-rod dystrophy 2; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- REVEL 0.18
- CADD 21.30
- PolyPhen-2 0.03
- SIFT 0.02
- ClinVar: Uncertain significance (Leber congenital amaurosis 7; Cone-rod dystrophy 2; Inborn genet)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- CRX Homeobox domain domainome 1.0: score -0.46
- 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)