F47Y (p.Phe47Tyr) variant of NF2 (Merlin)
F47Y (p.Phe47Tyr) in NF2 (Merlin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
F47Y (p.Phe47Tyr) variant details
- p.Phe47Tyr
- Ensembl rs2146852097
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available