R43H (p.Arg43His) variant of CRX (Cone-rod homeobox protein)
R43H (p.Arg43His) 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 Cone-rod dystrophy 2; Leber congenital amaurosis 7; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R43H (p.Arg43His) variant details
- p.Arg43His
- rs771736389
- ClinGen CA9544404
- NCI-TCGA Cosmic COSV9970
- cosmic curated COSV99704
- Pathogenic/Likely pathogenic
- Cone-rod dystrophy 2; Leber congenital amaurosis 7; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.877
- REVEL 0.98
- CADD 28.40
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Cone-rod dystrophy 2; Leber congenital amaurosis 7; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- CRX Homeobox domain domainome 1.0: score -0.705
- Cited in: Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. (PMID 30285347)