Q33* (p.Gln33Ter) variant of PCDH19 (Protocadherin-19)
Q33* (p.Gln33Ter) 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 0.67 / 1. The record also includes population frequency data and structural context.
Q33* (p.Gln33Ter) variant details
- p.Gln33Ter
- rs1928479952
- ClinGen CA414011381
- cosmic curated COSV55261
- ClinVar RCV002274362
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.669
- CADD 35.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available