R1748C (p.Arg1748Cys) variant of SETD1B (Q9UPS6)
R1748C (p.Arg1748Cys) in SETD1B (Q9UPS6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Intellectual developmental disorder with seizures and language del. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes published literature and structural context.
R1748C (p.Arg1748Cys) variant details
- p.Arg1748Cys
- rs2500244532
- ClinGen CA387001658
- ClinVar RCV003237184
- ClinVar RCV005930811
- Pathogenic/Likely pathogenic
- not provided; Intellectual developmental disorder with seizures and language del
- Missense
- Variant Prioritization Score for Impact Estimate 0.998
- ESM-1b 1.00
- AlphaMissense 1.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Intellectual developmental disorder with seizures)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: SETD1B-Related Neurodevelopmental Disorder. (PMID 36173874)