R158* (p.Arg158Ter) variant of SMARCE1 (Q969G3)
R158* (p.Arg158Ter) 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 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
R158* (p.Arg158Ter) variant details
- p.Arg158Ter
- rs1251821702
- ClinGen CA399366430
- NCI-TCGA Cosmic COSV5286
- cosmic curated COSV52860
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.683
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)