R1902C (p.Arg1902Cys) variant of SETD1B (Q9UPS6)
R1902C (p.Arg1902Cys) in SETD1B (Q9UPS6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Intellectual developmental disorder with seizures and language delay; Inborn gen. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
R1902C (p.Arg1902Cys) variant details
- p.Arg1902Cys
- rs1876922399
- ClinGen CA387005491
- cosmic curated COSV57350
- ClinVar RCV001255194
- Pathogenic/Likely pathogenic
- Intellectual developmental disorder with seizures and language delay; Inborn gen
- Missense
- Variant Prioritization Score for Impact Estimate 0.94
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.87
- MetaSVM 0.95
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Intellectual developmental disorder with seizures and language d)
- EBI: Pathogenic (in IDDSELD)
- UniProt: Pathogenic (in IDDSELD)
- Structural context available
- Cited in: De novo variants in SETD1B are associated with intellectual disability, epilepsy and autism. (PMID 29322246)
- Cited in: A genome-wide DNA methylation signature for SETD1B-related syndrome. (PMID 31685013)