R1885W (p.Arg1885Trp) variant of SETD1B (Q9UPS6)
R1885W (p.Arg1885Trp) in SETD1B (Q9UPS6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Intellectual developmental disorder with seizures and language delay. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes published literature and structural context.
R1885W (p.Arg1885Trp) variant details
- p.Arg1885Trp
- rs1876920040
- ClinGen CA387005239
- cosmic curated COSV57350
- ClinVar RCV001255193
- Likely pathogenic
- Intellectual developmental disorder with seizures and language delay
- Missense
- Variant Prioritization Score for Impact Estimate 0.836
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.76
- MetaSVM 0.52
- SIFT 0.00
- ClinVar: 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)