Y27* (p.Tyr27Ter) variant of PCDH19 (Protocadherin-19)
Y27* (p.Tyr27Ter) 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 0.83 / 1. The record also includes population frequency data and structural context.
Y27* (p.Tyr27Ter) variant details
- p.Tyr27Ter
- rs56307810
- ClinGen CA414011416
- ClinVar RCV001092888
- 1000Genomes rs56307810
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.83
- CADD 35.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available