Q18* (p.Gln18Ter) variant of PCDH19 (Protocadherin-19)
Q18* (p.Gln18Ter) 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.
Q18* (p.Gln18Ter) variant details
- p.Gln18Ter
- rs2147542870
- ClinGen CA414011481
- ClinVar RCV001972159
- ClinVar RCV004571657
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.667
- CADD 35.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available