D48E (p.Asp48Glu) variant of NF2 (Merlin)
D48E (p.Asp48Glu) in NF2 (Merlin) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes structural context.
D48E (p.Asp48Glu) variant details
- p.Asp48Glu
- Ensembl rs1018147647
- Likely benign
- Missense
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available