S3* (p.Ser3Ter) variant of PCDH19 (Protocadherin-19)
S3* (p.Ser3Ter) in PCDH19 (Protocadherin-19) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
S3* (p.Ser3Ter) variant details
- p.Ser3Ter
- rs2520999960
- ClinGen CA414011564
- ClinVar RCV003006136
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.752
- CADD 35.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available