S28* (p.Ser28Ter) variant of PCDH19 (Protocadherin-19)
S28* (p.Ser28Ter) in PCDH19 (Protocadherin-19) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
S28* (p.Ser28Ter) variant details
- p.Ser28Ter
- rs766962106
- ClinGen CA414011412
- ClinVar RCV001775401
- ExAC rs766962106
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.67
- CADD 35.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available