Y42* (p.Tyr42Ter) variant of NEB (Nebulin)
Y42* (p.Tyr42Ter) 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, population frequency data, experimental measurements, and published literature.
Y42* (p.Tyr42Ter) variant details
- p.Tyr42Ter
- rs2552280353
- ClinGen CA348795711
- ClinVar RCV002309289
- ClinVar RCV005254058
- Pathogenic
- Stop Gained
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:MSL population (allele frequency 0.013)
- NEB SH3 domain domainome 1.0: score -0.471
- Cited in: Clinical utility gene card for: nemaline myopathy. (PMID 22510848)