R48Q (p.Arg48Gln) variant of CRX (Cone-rod homeobox protein)
R48Q (p.Arg48Gln) 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 Leber congenital amaurosis 7; Cone-rod dystrophy 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R48Q (p.Arg48Gln) variant details
- p.Arg48Gln
- rs765302774
- ClinGen CA9544410
- NCI-TCGA Cosmic COSV5575
- cosmic curated COSV55756
- Uncertain significance
- Leber congenital amaurosis 7; Cone-rod dystrophy 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.724
- REVEL 0.70
- CADD 29.90
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Uncertain significance (Leber congenital amaurosis 7; Cone-rod dystrophy 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- CRX Homeobox domain domainome 1.0: score -0.0997
- Cited in: Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. (PMID 30285347)