Y101* (p.Tyr101Ter) variant of NEB (Nebulin)
Y101* (p.Tyr101Ter) 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 and population frequency data.
Y101* (p.Tyr101Ter) variant details
- p.Tyr101Ter
- ExAC rs760147050
- Pathogenic
- Stop Gained
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)