K44N (p.Lys44Asn) variant of NF2 (Merlin)
K44N (p.Lys44Asn) in NF2 (Merlin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The record also includes structural context.
K44N (p.Lys44Asn) variant details
- p.Lys44Asn
- Ensembl rs1224221346
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available