R592W (p.Arg592Trp) variant of RAI1 (Retinoic acid-induced protein 1)
R592W (p.Arg592Trp) in RAI1 (Retinoic acid-induced protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Smith-Magenis syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
R592W (p.Arg592Trp) variant details
- p.Arg592Trp
- rs1275950312
- ClinVar RCV004585130
- TOPMed rs1275950312
- gnomAD rs1275950312
- Likely pathogenic
- Smith-Magenis syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.22
- ESM-1b 0.31
- AlphaMissense 0.21
- CADD 25.80
- PolyPhen-2 0.83
- SIFT 0.00
- ClinVar: Likely pathogenic (Smith-Magenis syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Smith-Magenis Syndrome. (PMID 20301487)
- Cited in: Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. (PMID 23519317)