W104* (p.Trp104Ter) variant of SMARCE1 (Q969G3)
W104* (p.Trp104Ter) in SMARCE1 (Q969G3) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
W104* (p.Trp104Ter) variant details
- p.Trp104Ter
- rs397509407
- ClinGen CA143948
- ClinVar RCV000049255
- Ensembl rs397509407
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.975
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.95
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.98
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas. (PMID 23377182)
- Cited in: MN1 C-Terminal Truncation Syndrome. (PMID 32790267)