S39I (p.Ser39Ile) variant of RAI1 (Retinoic acid-induced protein 1)
S39I (p.Ser39Ile) in RAI1 (Retinoic acid-induced protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Smith-Magenis syndrome; RAI1-related disorder; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes published literature and structural context.
S39I (p.Ser39Ile) variant details
- p.Ser39Ile
- rs2143001466
- ClinGen CA398544791
- ClinVar RCV001977686
- ClinVar RCV004720351
- Conflicting interpretations
- Smith-Magenis syndrome; RAI1-related disorder; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- ESM-1b 0.00
- AlphaMissense 0.33
- MetaLR 0.31
- MetaSVM -0.25
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Smith-Magenis syndrome; RAI1-related disorder; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- 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)