R90W (p.Arg90Trp) variant of CRX (Cone-rod homeobox protein)
R90W (p.Arg90Trp) 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 Retinal dystrophy; Leber congenital amaurosis 7; Cone-rod dystrophy 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
R90W (p.Arg90Trp) variant details
- p.Arg90Trp
- rs104894673
- ClinGen CA118792
- cosmic curated COSV55757
- ClinVar RCV000007847
- Pathogenic/Likely pathogenic
- Retinal dystrophy; Leber congenital amaurosis 7; Cone-rod dystrophy 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.896
- REVEL 0.95
- CADD 31.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Retinal dystrophy; Leber congenital amaurosis 7; Cone-rod dystro)
- EBI: Pathogenic (in LCA7)
- UniProt: Pathogenic (in LCA7)
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available
- Cited in: The leucine zipper of NRL interacts with the CRX homeodomain. A possible mechanism of transcriptional synergy in… (PMID 10887186)
- Cited in: Leber congenital amaurosis caused by a homozygous mutation (R90W) in the homeodomain of the retinal transcription… (PMID 9931337)