S1795L (p.Ser1795Leu) variant of SETD1B (Q9UPS6)
S1795L (p.Ser1795Leu) in SETD1B (Q9UPS6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.96 / 1. The record also includes published literature and structural context.
S1795L (p.Ser1795Leu) variant details
- p.Ser1795Leu
- rs2500251718
- ClinGen CA387003281
- ClinVar RCV003233424
- Pathogenic
- Intellectual developmental disorder with seizures and language delay
- Missense
- Variant Prioritization Score for Impact Estimate 0.957
- ESM-1b 1.00
- AlphaMissense 0.91
- ClinVar: Pathogenic (Intellectual developmental disorder with seizures and language d)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: SETD1B-Related Neurodevelopmental Disorder. (PMID 36173874)