R43L (p.Arg43Leu) variant of CRX (Cone-rod homeobox protein)
R43L (p.Arg43Leu) in CRX (Cone-rod homeobox protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cone-rod dystrophy 2; Leber congenital amaurosis 7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R43L (p.Arg43Leu) variant details
- p.Arg43Leu
- rs771736389
- ClinGen CA406629455
- ClinVar RCV002029275
- ExAC rs771736389
- Uncertain significance
- Cone-rod dystrophy 2; Leber congenital amaurosis 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.872
- REVEL 0.97
- CADD 28.10
- PolyPhen-2 0.99
- SIFT 0.03
- ClinVar: Uncertain significance (Cone-rod dystrophy 2; Leber congenital amaurosis 7)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 0.00048)
- 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)