P210R (p.Pro210Arg) variant of RAI1 (Retinoic acid-induced protein 1)
P210R (p.Pro210Arg) 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 0.25 / 1. The record also includes published literature and structural context.
P210R (p.Pro210Arg) variant details
- p.Pro210Arg
- rs2508569976
- ClinGen CA398545880
- ClinVar RCV003329102
- Likely pathogenic
- Smith-Magenis syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- ESM-1b 0.00
- AlphaMissense 0.29
- ClinVar: Likely pathogenic (Smith-Magenis syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)