Q86K (p.Gln86Lys) variant of PMP22 (Peripheral myelin protein 22)
Q86K (p.Gln86Lys) in PMP22 (Peripheral myelin protein 22) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
Q86K (p.Gln86Lys) variant details
- p.Gln86Lys
- Ensembl rs11545341
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available