R69H (p.Arg69His) variant of CRX (Cone-rod homeobox protein)
R69H (p.Arg69His) 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; not provided; Cone-rod dystrophy 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
R69H (p.Arg69His) variant details
- p.Arg69His
- rs775073228
- ClinGen CA9544419
- cosmic curated COSV55758
- ClinVar RCV001093247
- Pathogenic/Likely pathogenic
- Retinal dystrophy; not provided; Cone-rod dystrophy 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.771
- REVEL 0.82
- CADD 24.70
- PolyPhen-2 0.62
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Retinal dystrophy; not provided; Cone-rod dystrophy 2)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- Cited in: Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. (PMID 30285347)