R90Q (p.Arg90Gln) variant of CRX (Cone-rod homeobox protein)
R90Q (p.Arg90Gln) in CRX (Cone-rod homeobox protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Cone-rod dystrophy 2; Leber congenital amaurosis 7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
R90Q (p.Arg90Gln) variant details
- p.Arg90Gln
- rs1209634994
- ClinGen CA406630283
- cosmic curated COSV55757
- ClinVar RCV000520899
- Conflicting interpretations
- not provided; Cone-rod dystrophy 2; Leber congenital amaurosis 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.836
- REVEL 0.90
- CADD 25.90
- PolyPhen-2 0.22
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Cone-rod dystrophy 2; Leber congenital amaurosis 7)
- EBI: Likely pathogenic (in LCA7)
- UniProt: Likely pathogenic (in LCA7)
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- Cited in: Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. (PMID 30285347)