Q59* (p.Gln59Ter) variant of NEB (Nebulin)
Q59* (p.Gln59Ter) in NEB (Nebulin) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes variant effect predictions, experimental measurements, and published literature.
Q59* (p.Gln59Ter) variant details
- p.Gln59Ter
- rs867732907
- ClinGen CA348795325
- ClinVar RCV001383953
- ClinVar RCV005237772
- Pathogenic
- Stop Gained
- AlphaMissense 0.07
- MetaLR 0.01
- MetaSVM -0.92
- PolyPhen-2 0.00
- SIFT 0.22
- MutPred 0.25
- EBI: Pathogenic
- UniProt: Pathogenic
- NEB SH3 domain domainome 1.0: score -0.992
- Cited in: Clinical utility gene card for: nemaline myopathy. (PMID 22510848)