K86* (p.Lys86Ter) variant of PCDH19 (Protocadherin-19)
K86* (p.Lys86Ter) in PCDH19 (Protocadherin-19) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
K86* (p.Lys86Ter) variant details
- p.Lys86Ter
- rs2520996511
- ClinGen CA414011001
- ClinVar RCV003013335
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available