R41W (p.Arg41Trp) variant of CRX (Cone-rod homeobox protein)
R41W (p.Arg41Trp) in CRX (Cone-rod homeobox protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cone-rod dystrophy 2; Leber congenital amaurosis 7; Retinal dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R41W (p.Arg41Trp) variant details
- p.Arg41Trp
- rs104894672
- ClinGen CA118790
- cosmic curated COSV55758
- ClinVar RCV000007843
- Pathogenic
- Cone-rod dystrophy 2; Leber congenital amaurosis 7; Retinal dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.73
- REVEL 0.95
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Retinal dystrophy)
- EBI: Pathogenic (in CORD2)
- UniProt: Pathogenic (in CORD2)
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- CRX Homeobox domain domainome 1.0: score -0.156
- Cited in: The leucine zipper of NRL interacts with the CRX homeodomain. A possible mechanism of transcriptional synergy in… (PMID 10887186)
- Cited in: Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration. (PMID 9427255)