D48H (p.Asp48His) variant of NF2 (Merlin)
D48H (p.Asp48His) in NF2 (Merlin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
D48H (p.Asp48His) variant details
- p.Asp48His
- TOPMed rs1352608076
- gnomAD rs1352608076
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available