R43C (p.Arg43Cys) variant of CRX (Cone-rod homeobox protein)
R43C (p.Arg43Cys) in CRX (Cone-rod homeobox protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cone-rod dystrophy 2; Leber congenital amaurosis 7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R43C (p.Arg43Cys) variant details
- p.Arg43Cys
- rs1437021651
- ClinGen CA406629451
- cosmic curated COSV55756
- ClinVar RCV000787585
- Pathogenic
- Cone-rod dystrophy 2; Leber congenital amaurosis 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.67
- REVEL 0.90
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Cone-rod dystrophy 2; Leber congenital amaurosis 7)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- CRX Homeobox domain domainome 1.0: score -0.705
- Cited in: Cone rod dystrophies. (PMID 17270046)
- Cited in: Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. (PMID 30285347)