E48K (p.Glu48Lys) variant of PCDH19 (Protocadherin-19)
E48K (p.Glu48Lys) in PCDH19 (Protocadherin-19) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
E48K (p.Glu48Lys) variant details
- p.Glu48Lys
- gnomAD rs132630326
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available