M39T (p.Met39Thr) variant of NF2 (Merlin)
M39T (p.Met39Thr) in NF2 (Merlin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Neurofibromatosis, type 2; Hereditary cancer-predisposing syndrome. The record also includes structural context.
M39T (p.Met39Thr) variant details
- p.Met39Thr
- Ensembl rs2146851457
- Uncertain significance
- Neurofibromatosis, type 2; Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (Neurofibromatosis, type 2; Hereditary cancer-predisposing syndro)
- UniProt: Uncertain significance
- Structural context available