K20* (p.Lys20Ter) variant of NF2 (Merlin)
K20* (p.Lys20Ter) in NF2 (Merlin) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
K20* (p.Lys20Ter) variant details
- p.Lys20Ter
- rs2064715459
- ClinGen CA411145998
- cosmic curated COSV58522
- ClinVar RCV001208229
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: NF2-Related Schwannomatosis. (PMID 20301380)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)