S67L (p.Ser67Leu) variant of PCDH19 (Protocadherin-19)
S67L (p.Ser67Leu) in PCDH19 (Protocadherin-19) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
S67L (p.Ser67Leu) variant details
- p.Ser67Leu
- cosmic curated COSV99719
- Ensembl rs868762744
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available