R40W (p.Arg40Trp) variant of CRX (Cone-rod homeobox protein)
R40W (p.Arg40Trp) 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 not provided; Retinal dystrophy; Leber congenital amaurosis 7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R40W (p.Arg40Trp) variant details
- p.Arg40Trp
- rs749738655
- ClinGen CA9544401
- NCI-TCGA Cosmic COSV5575
- cosmic curated COSV55759
- Pathogenic/Likely pathogenic
- not provided; Retinal dystrophy; Leber congenital amaurosis 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.733
- REVEL 0.94
- CADD 28.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Retinal dystrophy; Leber congenital amaurosis 7)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- CRX Homeobox domain domainome 1.0: score -0.277
- Cited in: Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. (PMID 30285347)
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)