K44E (p.Lys44Glu) variant of NF2 (Merlin)
K44E (p.Lys44Glu) 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.
K44E (p.Lys44Glu) variant details
- p.Lys44Glu
- rs2146851850
- ClinGen CA411152444
- ClinVar RCV001913460
- Ensembl rs2146851850
- Uncertain significance
- Neurofibromatosis, type 2
- Missense
- ClinVar: Uncertain significance (Neurofibromatosis, type 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)