E1948K (p.Glu1948Lys) variant of SETD1B (Q9UPS6)
E1948K (p.Glu1948Lys) 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 0.90 / 1. The record also includes published literature and structural context.
E1948K (p.Glu1948Lys) variant details
- p.Glu1948Lys
- rs2137594297
- ClinGen CA387006217
- cosmic curated COSV57349
- ClinVar RCV001548318
- Pathogenic/Likely pathogenic
- not provided; Intellectual developmental disorder with seizures and language del
- Missense
- Variant Prioritization Score for Impact Estimate 0.895
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.78
- MetaSVM 0.89
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Intellectual developmental disorder with seizures)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome. (PMID 34345025)
- Cited in: SETD1B-Related Neurodevelopmental Disorder. (PMID 36173874)