R48W (p.Arg48Trp) variant of CRX (Cone-rod homeobox protein)
R48W (p.Arg48Trp) 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 Retinal dystrophy; Leber congenital amaurosis 7; Cone-rod dystrophy 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R48W (p.Arg48Trp) variant details
- p.Arg48Trp
- rs761797993
- ClinGen CA9544409
- NCI-TCGA Cosmic COSV9970
- cosmic curated COSV99704
- Uncertain significance
- Retinal dystrophy; Leber congenital amaurosis 7; Cone-rod dystrophy 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.569
- REVEL 0.74
- CADD 23.10
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Uncertain significance (Retinal dystrophy; Leber congenital amaurosis 7; Cone-rod dystro)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-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)