E49* (p.Glu49Ter) variant of PCDH15 (Protocadherin-15)
E49* (p.Glu49Ter) 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 0.88 / 1. The record also includes population frequency data and published literature.
E49* (p.Glu49Ter) variant details
- p.Glu49Ter
- rs1168400018
- ClinGen CA376541403
- ClinVar RCV000670660
- ClinVar RCV003472126
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.882
- CADD 41.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: Usher Syndrome Type I. (PMID 20301442)