C113W (p.Cys113Trp) variant of PCDH19 (Protocadherin-19)
C113W (p.Cys113Trp) in PCDH19 (Protocadherin-19) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes structural context.
C113W (p.Cys113Trp) variant details
- p.Cys113Trp
- ExAC rs757433043
- gnomAD rs757433043
- Likely benign
- Missense
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available