K44* (p.Lys44Ter) variant of NF2 (Merlin)
K44* (p.Lys44Ter) in NF2 (Merlin) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
K44* (p.Lys44Ter) variant details
- p.Lys44Ter
- cosmic curated COSV58519
- Ensembl rs2146851850
- Uncertain significance
- Stop Gained
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available