W84* (p.Trp84Ter) variant of PCDH15 (Protocadherin-15)
W84* (p.Trp84Ter) 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 0.85 / 1. The record also includes population frequency data and published literature.
W84* (p.Trp84Ter) variant details
- p.Trp84Ter
- rs2547872482
- ClinGen CA376540549
- ClinVar RCV002306927
- ClinVar RCV003099158
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.854
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: Usher Syndrome Type I. (PMID 20301442)