K40E (p.Lys40Glu) variant of NF2 (Merlin)
K40E (p.Lys40Glu) in NF2 (Merlin) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
K40E (p.Lys40Glu) variant details
- p.Lys40Glu
- Ensembl rs2146851519
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available