S1414Y (p.Ser1414Tyr) variant of SETD1B (Q9UPS6)
S1414Y (p.Ser1414Tyr) 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 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
S1414Y (p.Ser1414Tyr) variant details
- p.Ser1414Tyr
- rs2500233324
- ClinGen CA386998622
- ClinVar RCV002306238
- Likely pathogenic
- Intellectual developmental disorder with seizures and language delay
- Missense
- Variant Prioritization Score for Impact Estimate 0.521
- REVEL 0.27
- ESM-1b 1.00
- AlphaMissense 0.42
- CADD 24.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Intellectual developmental disorder with seizures and language d)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: SETD1B-Related Neurodevelopmental Disorder. (PMID 36173874)