K20Q (p.Lys20Gln) variant of NF2 (Merlin)
K20Q (p.Lys20Gln) in NF2 (Merlin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Neurofibromatosis, type 2. The record also includes published literature and structural context.
K20Q (p.Lys20Gln) variant details
- p.Lys20Gln
- rs2064715459
- ClinGen CA411145993
- ClinVar RCV001040486
- Ensembl rs2064715459
- Uncertain significance
- Neurofibromatosis, type 2
- Missense
- ClinVar: Uncertain significance (Neurofibromatosis, type 2)
- 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)