D30H (p.Asp30His) variant of NF2 (Merlin)
D30H (p.Asp30His) in NF2 (Merlin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
D30H (p.Asp30His) variant details
- p.Asp30His
- Ensembl rs1601516058
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available