R69C (p.Arg69Cys) variant of CRX (Cone-rod homeobox protein)
R69C (p.Arg69Cys) 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 not provided; Cone-rod dystrophy 2; Leber congenital amaurosis 7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
R69C (p.Arg69Cys) variant details
- p.Arg69Cys
- rs771551785
- ClinGen CA9544418
- cosmic curated COSV55759
- ClinVar RCV000678552
- Pathogenic/Likely pathogenic
- not provided; Cone-rod dystrophy 2; Leber congenital amaurosis 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.8
- REVEL 0.87
- CADD 25.00
- PolyPhen-2 0.62
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Cone-rod dystrophy 2; Leber congenital amaurosis 7)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. (PMID 30285347)
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)