M39L (p.Met39Leu) variant of NF2 (Merlin)
M39L (p.Met39Leu) in NF2 (Merlin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
M39L (p.Met39Leu) variant details
- p.Met39Leu
- ExAC rs761188569
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available