Q4* (p.Gln4Ter) variant of PCDH15 (Protocadherin-15)
Q4* (p.Gln4Ter) in PCDH15 (Protocadherin-15) 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 0.53 / 1. The record also includes population frequency data.
Q4* (p.Gln4Ter) variant details
- p.Gln4Ter
- rs2549545770
- ClinGen CA376542034
- ClinVar RCV003037674
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.528
- CADD 35.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 1.2e-05)