R41Q (p.Arg41Gln) variant of CRX (Cone-rod homeobox protein)
R41Q (p.Arg41Gln) 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 Inborn genetic diseases; Retinal dystrophy; Leber congenital amaurosis 7. 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.
R41Q (p.Arg41Gln) variant details
- p.Arg41Gln
- rs61748436
- ClinGen CA118791
- NCI-TCGA Cosmic COSV9970
- cosmic curated COSV99704
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; Retinal dystrophy; Leber congenital amaurosis 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.849
- REVEL 0.93
- CADD 28.50
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; Retinal dystrophy; Leber congenital ama)
- EBI: Pathogenic (in RP)
- UniProt: Pathogenic (in RP)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- CRX Homeobox domain domainome 1.0: score -0.156
- Cited in: Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies. (PMID 11139241)
- Cited in: Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration. (PMID 9427255)