M39I (p.Met39Ile) variant of NF2 (Merlin)
M39I (p.Met39Ile) 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.
M39I (p.Met39Ile) variant details
- p.Met39Ile
- Ensembl rs2146851495
- cosmic curated COSV58519
- 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