Q57* (p.Gln57Ter) variant of PCDH19 (Protocadherin-19)
Q57* (p.Gln57Ter) 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 0.77 / 1. The record also includes population frequency data and structural context.
Q57* (p.Gln57Ter) variant details
- p.Gln57Ter
- rs1367823627
- ClinGen CA414011231
- ClinVar RCV000516328
- ClinVar RCV005091194
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.77
- CADD 35.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available