R40* (p.Arg40Ter) variant of SMARCB1 (Q12824)
R40* (p.Arg40Ter) in SMARCB1 (Q12824) 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 0.87 / 1. The record also includes experimental measurements, published literature, and structural context.
R40* (p.Arg40Ter) variant details
- p.Arg40Ter
- rs1060503015
- ClinGen CA16616318
- cosmic curated COSV54092
- ClinVar RCV001390068
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.87
- AlphaMissense 1.00
- MetaLR 0.90
- MetaSVM 0.96
- PolyPhen-2 1.00
- SIFT 0.01
- MutPred 0.55
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- SMARCB1 SNF5/SMARCB1/INI1 domain domainome 1.0: score -0.33
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: Rhabdoid Tumor Predisposition Syndrome. (PMID 29215836)