R40Q (p.Arg40Gln) variant of CRX (Cone-rod homeobox protein)
R40Q (p.Arg40Gln) in CRX (Cone-rod homeobox protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cone-rod dystrophy 2; Leber congenital amaurosis 7; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R40Q (p.Arg40Gln) variant details
- p.Arg40Gln
- rs771450991
- ClinGen CA9544402
- ClinVar RCV000504788
- ClinVar RCV001857203
- Pathogenic/Likely pathogenic
- Cone-rod dystrophy 2; Leber congenital amaurosis 7; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.845
- REVEL 0.87
- AlphaMissense 0.98
- MetaLR 0.95
- MetaSVM 1.06
- CADD 29.60
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Cone-rod dystrophy 2; Leber congenital amaurosis 7; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- CRX Homeobox domain domainome 1.0: score -0.277
- Cited in: Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. (PMID 30285347)