S45* (p.Ser45Ter) variant of NEB (Nebulin)
S45* (p.Ser45Ter) in NEB (Nebulin) is a protein-truncating change. The record also includes variant effect predictions, population frequency data, and experimental measurements.
S45* (p.Ser45Ter) variant details
- p.Ser45Ter
- cosmic curated COSV10635
- cosmic curated COSV99413
- Stop Gained
- CADD 35.00
- Population evidence available
- NEB SH3 domain domainome 1.0: score -0.253