K40R (p.Lys40Arg) variant of NF2 (Merlin)
K40R (p.Lys40Arg) in NF2 (Merlin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Neurofibromatosis, type 2. The record also includes structural context.
K40R (p.Lys40Arg) variant details
- p.Lys40Arg
- cosmic curated COSV58520
- Ensembl rs2146851539
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Neurofibromatosis, type 2
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Neurofibromatosis, type)
- UniProt: Uncertain significance
- Structural context available