R1825W (p.Arg1825Trp) variant of SETD1B (Q9UPS6)
R1825W (p.Arg1825Trp) in SETD1B (Q9UPS6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
R1825W (p.Arg1825Trp) variant details
- p.Arg1825Trp
- rs2500252391
- ClinGen CA387004669
- ClinVar RCV002463400
- ClinVar RCV003103151
- Likely pathogenic
- not provided; Intellectual developmental disorder with seizures and language del
- Missense
- Variant Prioritization Score for Impact Estimate 0.796
- REVEL 0.71
- ESM-1b 1.00
- AlphaMissense 1.00
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided; Intellectual developmental disorder with seizures)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: SETD1B-Related Neurodevelopmental Disorder. (PMID 36173874)