S21* (p.Ser21Ter) variant of SETD1B (Q9UPS6)
S21* (p.Ser21Ter) in SETD1B (Q9UPS6) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes published literature and structural context.
S21* (p.Ser21Ter) variant details
- p.Ser21Ter
- rs12814488
- ClinGen CA386986877
- ClinVar RCV003137337
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.757
- AlphaMissense 0.57
- MetaLR 0.82
- MetaSVM 0.77
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.30
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: SETD1B-Related Neurodevelopmental Disorder. (PMID 36173874)