E110* (p.Glu110Ter) variant of SMARCE1 (Q969G3)
E110* (p.Glu110Ter) in SMARCE1 (Q969G3) 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 0.83 / 1. The record also includes published literature and structural context.
E110* (p.Glu110Ter) variant details
- p.Glu110Ter
- rs2143997316
- ClinGen CA399367132
- ClinVar RCV001983042
- ClinVar RCV002324410
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.825
- AlphaMissense 0.95
- MetaLR 0.91
- MetaSVM 1.01
- PolyPhen-2 0.50
- SIFT 0.06
- EVE 0.72
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: MN1 C-Terminal Truncation Syndrome. (PMID 32790267)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)